Medical Attention for Nephropathy)

Total Page:16

File Type:pdf, Size:1020Kb

Medical Attention for Nephropathy) PT‐ 2020 Measure Value Set_CDC (Medical Attention for Nephropathy) Numerator Value Set Name Code Definition Code System Urine Protein Tests 81000 CPT Urine Protein Tests 81001 CPT Urine Protein Tests 81002 CPT Urine Protein Tests 81003 CPT Urine Protein Tests 81005 CPT Urine Protein Tests 82042 CPT Urine Protein Tests 82043 CPT Urine Protein Tests 82044 CPT Urine Protein Tests 84156 CPT Urine Protein Tests 3060F Positive microalbuminuria test result documented and reviewed (DM) CPT‐CAT‐II Urine Protein Tests 3061F Negative microalbuminuria test result documented and reviewed (DM) CPT‐CAT‐II Urine Protein Tests 3062F Positive macroalbuminuria test result documented and reviewed (DM) CPT‐CAT‐II Urine Protein Tests 11218‐5 Microalbumin [Mass/volume] in Urine by Test strip LOINC Urine Protein Tests 12842‐1 Protein [Mass/volume] in 12 hour Urine LOINC Urine Protein Tests 13705‐9 Albumin/Creatinine [Mass Ratio] in 24 hour Urine LOINC Urine Protein Tests 13801‐6 Protein/Creatinine [Mass Ratio] in 24 hour Urine LOINC Urine Protein Tests 13986‐5 Albumin/Protein.total in 24 hour Urine by Electrophoresis LOINC Urine Protein Tests 13992‐3 Albumin/Protein.total in Urine by Electrophoresis LOINC Urine Protein Tests 14956‐7 Microalbumin [Mass/time] in 24 hour Urine LOINC Urine Protein Tests 14957‐5 Microalbumin [Mass/volume] in Urine LOINC Urine Protein Tests 14958‐3 Microalbumin/Creatinine [Mass Ratio] in 24 hour Urine LOINC Urine Protein Tests 14959‐1 Microalbumin/Creatinine [Mass Ratio] in Urine LOINC Urine Protein Tests 1753‐3 Albumin [Presence] in Urine LOINC Urine Protein Tests 1754‐1 Albumin [Mass/volume] in Urine LOINC Urine Protein Tests 1755‐8 Albumin [Mass/time] in 24 hour Urine LOINC Urine Protein Tests 1757‐4 Albumin renal clearance in 24 hour Urine and Serum or Plasma LOINC Urine Protein Tests 17819‐4 Albumin/Protein.total by Electrophoresis in Urine collected for unspecified duration LOINC Urine Protein Tests 18373‐1 Protein [Mass/time] in 6 hour Urine LOINC Urine Protein Tests 20454‐5 Protein [Presence] in Urine by Test strip LOINC Urine Protein Tests 20621‐9 Albumin/Creatinine [Presence] in Urine by Test strip LOINC Urine Protein Tests 21059‐1 Albumin [Mass/volume] in 24 hour Urine LOINC Urine Protein Tests 21482‐5 Protein [Mass/volume] in 24 hour Urine LOINC Urine Protein Tests 26801‐1 Protein [Mass/time] in 12 hour Urine LOINC Urine Protein Tests 27298‐9 Protein [Units/volume] in Urine LOINC Urine Protein Tests 2887‐8 Protein [Presence] in Urine LOINC Urine Protein Tests 2888‐6 Protein [Mass/volume] in Urine LOINC Urine Protein Tests 2889‐4 Protein [Mass/time] in 24 hour Urine LOINC Urine Protein Tests 2890‐2 Protein/Creatinine [Mass Ratio] in Urine LOINC Urine Protein Tests 29946‐1 Albumin [Presence] in 24 hour Urine by Electrophoresis LOINC Urine Protein Tests 30000‐4 Microalbumin/Creatinine [Ratio] in Urine LOINC Urine Protein Tests 30001‐2 Microalbumin/Creatinine [Ratio] in Urine by Test strip LOINC Urine Protein Tests 30003‐8 Microalbumin [Mass/volume] in 24 hour Urine LOINC Urine Protein Tests 32209‐9 Protein [Presence] in 24 hour Urine by Test strip LOINC November 2019 Page 1 of 152 PT‐ 2020 Measure Value Set_CDC (Medical Attention for Nephropathy) Numerator Value Set Name Code Definition Code System Urine Protein Tests 32294‐1 Albumin/Creatinine [Ratio] in Urine LOINC Urine Protein Tests 32551‐4 Protein [Mass] in Urine collected for unspecified duration LOINC Urine Protein Tests 34366‐5 Protein/Creatinine [Ratio] in Urine LOINC Urine Protein Tests 35663‐4 Protein [Mass/volume] in Urine collected for unspecified duration LOINC Urine Protein Tests 40486‐3 Protein/Creatinine [Ratio] in 24 hour Urine LOINC Urine Protein Tests 40662‐9 Protein [Mass/time] in 12 hour Urine ‐‐resting LOINC Urine Protein Tests 40663‐7 Protein [Mass/time] in 12 hour Urine ‐‐upright LOINC Urine Protein Tests 43605‐5 Microalbumin [Mass/volume] in 4 hour Urine LOINC Urine Protein Tests 43606‐3 Microalbumin [Mass/time] in 4 hour Urine LOINC Urine Protein Tests 43607‐1 Microalbumin [Mass/time] in 12 hour Urine LOINC Urine Protein Tests 44292‐1 Microalbumin/Creatinine [Mass Ratio] in 12 hour Urine LOINC Urine Protein Tests 47558‐2 Microalbumin/Protein.total in 24 hour Urine LOINC Urine Protein Tests 49002‐9 Albumin [Mass/time] in Urine collected for unspecified duration LOINC Urine Protein Tests 49023‐5 Microalbumin [Mass/time] in Urine collected for unspecified duration LOINC Urine Protein Tests 50209‐6 Albumin [Mass/time] in Urine collected for unspecified duration ‐‐supine LOINC Urine Protein Tests 50561‐0 Protein [Mass/volume] in Urine by Automated test strip LOINC Urine Protein Tests 50949‐7 Albumin [Presence] in Urine by Test strip LOINC Urine Protein Tests 51190‐7 Albumin [Mass/volume] in 24 hour Urine by Electrophoresis LOINC Urine Protein Tests 53121‐0 Protein [Mass/time] in 1 hour Urine LOINC Urine Protein Tests 53525‐2 Protein [Presence] in Urine by SSA method LOINC Urine Protein Tests 53530‐2 Microalbumin [Mass/volume] in 24 hour Urine by Detection limit <= 1.0 mg/L LOINC Urine Protein Tests 53531‐0 Microalbumin [Mass/volume] in Urine by Detection limit <= 1.0 mg/L LOINC Urine Protein Tests 53532‐8 Microalbumin [Mass/time] in 24 hour Urine by Detection limit <= 1.0 mg/L LOINC Urine Protein Tests 56553‐1 Microalbumin [Mass/time] in 8 hour Urine LOINC Urine Protein Tests 57369‐1 Microalbumin [Mass/volume] in 12 hour Urine LOINC Urine Protein Tests 57735‐3 Protein [Presence] in Urine by Automated test strip LOINC Urine Protein Tests 5804‐0 Protein [Mass/volume] in Urine by Test strip LOINC Urine Protein Tests 58448‐2 Microalbumin ug/min [Mass/time] in 24 hour Urine LOINC Urine Protein Tests 58992‐9 Protein [Mass/time] in 18 hour Urine LOINC Urine Protein Tests 59159‐4 Microalbumin/Creatinine [Ratio] in 24 hour Urine LOINC Urine Protein Tests 60678‐0 Protein/Creatinine [Mass Ratio] in 12 hour Urine LOINC Urine Protein Tests 63474‐1 Microalbumin [Mass/time] in 18 hour Urine LOINC Urine Protein Tests 6941‐9 Albumin [Mass/time] in 24 hour Urine by Electrophoresis LOINC Urine Protein Tests 6942‐7 Albumin [Mass/volume] in Urine by Electrophoresis LOINC Urine Protein Tests 76401‐9 Albumin/Creatinine [Ratio] in 24 hour Urine LOINC Urine Protein Tests 77253‐3 Microalbumin/Creatinine [Ratio] in Urine by Detection limit <= 1.0 mg/L LOINC Urine Protein Tests 77254‐1 Microalbumin/Creatinine [Ratio] in 24 hour Urine by Detection limit <= 1.0 mg/L LOINC Urine Protein Tests 77940‐5 Albumin [Mass/volume] by Electrophoresis in Urine collected for unspecified duration LOINC Urine Protein Tests 89998‐9 Albumin/Creatinine [Ratio] in Urine by Detection limit <= 3.0 mg/L LOINC Urine Protein Tests 89999‐7 Albumin [Mass/volume] in Urine by Detection limit <= 3.0 mg/L LOINC Urine Protein Tests 90000‐1 Albumin [Mass/time] in 24 hour Urine by Detection limit <= 3.0 mg/L LOINC Urine Protein Tests 9318‐7 Albumin/Creatinine [Mass Ratio] in Urine LOINC November 2019 Page 2 of 152 PT‐ 2020 Measure Value Set_CDC (Medical Attention for Nephropathy) Numerator Value Set Name Code Definition Code System SNOMED CT US Urine Protein Tests 19518008 Protein measurement, urine, quantitative 24 hour (procedure) Edition SNOMED CT US Urine Protein Tests 29809003 Microalbuminuria measurement, 10‐hour collection, urine (procedure) Edition SNOMED CT US Urine Protein Tests 45590004 Microalbuminuria measurement, 24‐hour collection, urine (procedure) Edition SNOMED CT US Urine Protein Tests 46716003 Microalbuminuria measurement (procedure) Edition SNOMED CT US Urine Protein Tests 57378007 Protein measurement, urine (procedure) Edition SNOMED CT US Urine Protein Tests 104486009 Albumin measurement, urine, quantitative (procedure) Edition SNOMED CT US Urine Protein Tests 104819000 Microalbumin measurement, urine, quantitative (procedure) Edition SNOMED CT US Urine Protein Tests 104820006 Microalbumin measurement, urine, semi‐quantitative (procedure) Edition SNOMED CT US Urine Protein Tests 171247004 Urine screening for protein (procedure) Edition SNOMED CT US Urine Protein Tests 270999004 Urine total protein measurement (procedure) Edition SNOMED CT US Urine Protein Tests 271000000 Urine albumin measurement (procedure) Edition SNOMED CT US Urine Protein Tests 271346009 Urine dipstick for protein (procedure) Edition SNOMED CT US Urine Protein Tests 313502007 24 hour urine albumin output measurement (procedure) Edition SNOMED CT US Urine Protein Tests 391410005 Urine methemalbumin level (procedure) Edition SNOMED CT US Urine Protein Tests 412902007 Urine microalbumin profile (procedure) Edition SNOMED CT US Urine Protein Tests 417187008 Random urine protein level (procedure) Edition Nephropathy Documentation of treatment for nephropathy (eg, patient receiving dialysis, patient being treated for ESRD, 3066F CPT‐CAT‐II Treatment CRF, ARF, or renal insufficiency, any visit to a nephrologist) (DM) Nephropathy Angiotensin Converting Enzyme (ACE) Inhibitor or Angiotensin Receptor Blocker (ARB) therapy prescribed or 4010F CPT‐CAT‐II Treatment currently being taken (CAD, CKD, HF) (DM) Nephropathy E08.21 [E08.21] Diabetes mellitus due to underlying condition with diabetic nephropathy ICD10CM Treatment Nephropathy E08.22 [E08.22] Diabetes mellitus due to underlying condition with diabetic chronic kidney disease ICD10CM Treatment Nephropathy E08.29 [E08.29] Diabetes mellitus due to underlying condition with other diabetic kidney complication ICD10CM Treatment November 2019 Page 3 of 152 PT‐ 2020 Measure Value Set_CDC (Medical Attention for Nephropathy) Numerator Value Set Name Code Definition Code
Recommended publications
  • MYH9-Related Platelet Disorders
    Reprinted with permission from Thieme Medical Publishers (Semin Thromb Hemost 2009;35:189-203) Homepage at www.thieme.com MYH9-Related Platelet Disorders Karina Althaus, M.D.,1 and Andreas Greinacher, M.D.1 ABSTRACT Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein. Several mutations in the MYH9 gene lead to premature release of platelets from the bone marrow, macro- thrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Four overlapping syndromes, known as May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian platelet syndrome, describe different clinical manifestations of MYH9 gene mutations. Macrothrombocytopenia is present in all affected individuals, whereas only some develop additional clinical manifestations such as renal failure, hearing loss, and presenile cataracts. The bleeding tendency is usually moderate, with menorrhagia and easy bruising being most frequent. The biggest risk for the individual is inappropriate treatment due to misdiagnosis of chronic autoimmune thrombocytopenia. To date, 31 mutations of the MYH9 gene leading to macrothrombocytopenia have been identified, of which the upstream mutations up to amino acid 1400 are more likely associated with syndromic manifestations than the downstream mutations. This review provides a short history of MYH9-related disorders, summarizes the clinical and laboratory character- istics, describes a diagnostic algorithm, presents recent results of animal models, and discusses aspects of therapeutic management. KEYWORDS: MYH9 gene, nonmuscle myosin IIA, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Sebastian platelet syndrome, macrothrombocytopenia The correct diagnosis of hereditary chronic as isolated platelet count reductions or as part of thrombocytopenias is important for planning appropri- more complex clinical syndromes.
    [Show full text]
  • Alport Syndrome of the European Dialysis Population Suffers from AS [26], and Simi- Lar Figures Have Been Found in Other Series
    DOCTOR OF MEDICAL SCIENCE Patients with AS constitute 2.3% (11/476) of the renal transplant population at the Mayo Clinic [24], and 1.3% of 1,000 consecutive kidney transplant patients from Sweden [25]. Approximately 0.56% Alport syndrome of the European dialysis population suffers from AS [26], and simi- lar figures have been found in other series. AS accounts for 18% of Molecular genetic aspects the patients undergoing dialysis or having received a kidney graft in 2003 in French Polynesia [27]. A common founder mutation was in Jens Michael Hertz this area. In Denmark, the percentage of patients with AS among all patients starting treatment for ESRD ranges from 0 to 1.21% (mean: 0.42%) in a twelve year period from 1990 to 2001 (Danish National This review has been accepted as a thesis together with nine previously pub- Registry. Report on Dialysis and Transplantation in Denmark 2001). lished papers by the University of Aarhus, February 5, 2009, and defended on This is probably an underestimate due to the difficulties of establish- May 15, 2009. ing the diagnosis. Department of Clinical Genetics, Aarhus University Hospital, and Faculty of Health Sciences, Aarhus University, Denmark. 1.3 CLINICAL FEATURES OF X-LINKED AS Correspondence: Klinisk Genetisk Afdeling, Århus Sygehus, Århus Univer- 1.3.1 Renal features sitetshospital, Nørrebrogade 44, 8000 Århus C, Denmark. AS in its classic form is a hereditary nephropathy associated with E-mail: [email protected] sensorineural hearing loss and ocular manifestations. The charac- Official opponents: Lisbeth Tranebjærg, Allan Meldgaard Lund, and Torben teristic renal features in AS are persistent microscopic hematuria ap- F.
    [Show full text]
  • Case Report Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells Before End-Stage Renal Failure
    Hindawi Case Reports in Nephrology Volume 2019, Article ID 5149762, 6 pages https://doi.org/10.1155/2019/5149762 Case Report Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure Shin Teshirogi,1 Jun Muratsu ,1 Hidenori Kasahara,1 Ken Terashima,1 Sho Miki,1 Tomohiro Minami,1 Yujiro Okute,1 Suguru Yoneda,1 Atsuyuki Morishima ,1 Shinji Kunishima,2 and Katsuhiko Sakaguchi 1 1Department of Nephrology and Hypertension, Sumitomo Hospital, 5-3-20 Nakanoshima, Kita-ku, Osaka 530-0005, Japan 2Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan Correspondence should be addressed to Jun Muratsu; [email protected] Received 22 June 2019; Revised 21 August 2019; Accepted 4 October 2019; Published 26 November 2019 Academic Editor: Yoshihide Fujigaki Copyright © 2019 Shin Teshirogi et al. is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. As a MYH9 disorder, Fechtner syndrome is characterized by nephritis, giant platelets, granulocyte inclusion bodies (Döhle-like bodies), cataract, and sensorineural deafness. Observation of peripheral blood smear for the presence of thrombocytopenia, giant platelets, and granulocyte inclusion bodies (Döhle-like bodies) is highly important for the early diagnosis of MYH9 disorders. In our two cases, sequencing analysis of the MYH9 gene indicated mutations in exon 24. Both cases were diagnosed as the MYH9 disorders Fechtner syndrome before end-stage renal failure on the basis of the observation of peripheral blood smear.
    [Show full text]
  • MYH9 Mutation, the Hidden Face of Diverse Disease
    Urology & Nephrology Open Access Journal Case Report Open Access MYH9 mutation the hidden face of diverse disease spectrum - from renal perspective; renal perspective of MYH9 mutation Abstract Volume 5 Issue 4 - 2017 MYH9 (myosin heavy chain 9)-mutation is a frequent genetic disorder among African- 1 1 Americans and rare in Caucasians that can lead to dramatic deterioration of renal function Assel Rakhmetova, Pakesh Baishya, Pouneh 1 2 1 and as a consequence, end stage renal disease (ESRD). The clinical presentation of MYH9 Dokouhaki, Abdullah Alabbas, Kim Solez 1 mutations includes five syndromes: May-Hegglin anomaly, Sebastian, Fechtner, Epstein Department of laboratory medicine and pathology, University syndromes and isolated sensorineural deafness. The diagnosis is challenging to establish of Alberta hospital, Canada 2Department of pediatrics, division of nephrology, University of due to non-specific presentation that requires exclusion of a vast number of other entities. Alberta hospital, Canada Renal biopsy is not commonly performed but it may reveal non-specific findings such as mesangial expansion with hypercellularity, focal segmental glomerulosclerosis (FSGS) Correspondence: Pakesh Baishya, Department of laboratory and/or global glomerulosclerosis usually with no immune complex deposition. The medicine and pathology, University of Alberta hospital, immunostaining study for alpha-smooth muscle actin (SMA) can be valuable to perform Edmonton, Alberta, Canada, Tel 1 5875328105, in patients suspected to have MYH9 mutations in order to detect early FSGS. Additional Email studies for patients presenting with thrombocytopenia, decreasing glomerular filtration rate, proteinuria and haematuria are suggested. Here, we report a child with classic clinical picture Received: December 10, 2017 | Published: October 26, 2017 of MYH9 genetic disorder that presented with early focal segmental glomerulosclerosis with possible concurrent C1q nephropathy.
    [Show full text]
  • Genetic Disorders of the Glomerular Filtration Barrier
    CJASN ePress. Published on April 23, 2020 as doi: 10.2215/CJN.11440919 Genetic Disorders of the Glomerular Filtration Barrier Anna S. Li,1,2 Jack F. Ingham,1 and Rachel Lennon 1,3 Abstract The glomerular filtration barrier is a highly specialized capillary wall comprising fenestrated endothelial cells, podocytes, and an intervening basement membrane. In glomerular disease, this barrier loses functional integrity, allowing the passage of macromolecules and cells, and there are associated changes in both cell morphology and the extracellular matrix. Over the past three decades there has been a transformation in our understanding about glomerular disease, fueled by genetic discovery, and this is leading to exciting advances in our knowledge about 1Division of Cell- glomerular biology and pathophysiology. In current clinical practice, a genetic diagnosis already has important Matrix Biology and implications for management ranging from estimating the risk of disease recurrence post-transplant to the life- Regenerative changing advances in the treatment of atypical hemolytic uremic syndrome. Improving our understanding about Medicine, Wellcome Centre for Cell-Matrix the mechanistic basis of glomerular disease is required for more effective and personalized therapy options. In this Research, School of review we describe genotype and phenotype correlations for genetic disorders of the glomerular filtration barrier, Biological Sciences, with a particular emphasis on how these gene defects cluster by both their ontology and patterns of glomerular Faculty of Biology, pathology. Medicine and Health, CJASN ccc–ccc Manchester Academic 15: , 2020. doi: https://doi.org/10.2215/CJN.11440919 Health Science Centre, The University of Manchester, Introduction fenestrae that are 70–100 nm in diameter and covered Manchester, United .
    [Show full text]
  • The First Case of MYH9 Related Disorder in Serbia Kongenitalna Trombocitopenija Sa Nefritisom – Prvi Bolesnik Sa MYH9 Poremeüajem U Srbiji
    Vojnosanit Pregl 2014; 71(4): 395–398. VOJNOSANITETSKI PREGLED Strana 395 UDC: 575:61]:[616.155.2-056.7:616.61 CASE REPORTS DOI: 10.2298/VSP121127001K Congenital thrombocytopenia with nephritis – The first case of MYH9 related disorder in Serbia Kongenitalna trombocitopenija sa nefritisom – prvi bolesnik sa MYH9 poremeüajem u Srbiji Miloš Kuzmanoviü*†, Shinji Kunishima‡, Jovana Putnik†, Nataša Stajiü*†, Aleksandra Paripoviü†, Radovan Bogdanoviü*† *Faculty of Medicine, University of Belgrade, Belgrade, Serbia; †Institute of Mother and Child Health Care of Serbia „Dr Vukan ýupiü“, Belgrade, Serbia; ‡Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan Abstract Apstrakt Introduction. The group of autosomal dominant disor- Uvod. Grupu autozomno dominantnih poremeýaja – Ep- ders – Epstein syndrome, Sebastian syndrome, Fechthner steinov sindrom, Sebastianov sindrom, Fechthnerov sindrom syndrome and May-Hegglin anomaly – are characterised i May-Hegglinovu anomaliju – odlikuju trombocitopenija sa by thrombocytopenia with giant platelets, inclusion bod- džinovskim trombocitima, inkluzije u granulocitima, kao i ra- ies in granulocytes and variable levels of deafness, dis- zliÿita zastupljenost gluvoýe, poremeýaja vida i funkcije bub- turbances of vision and renal function impairment. A rega. Genetska osnova ovih sindroma su mutacije u genu za common genetic background of these disorders are mu- teški lanac nemišiýnog miozina IIA, a za ovu grupu sindroma tations in MYH9 gene, coding for the nonmuscle myosin predložen je naziv bolesti vezane za MYH9. Diferencijalna heavy chain IIA. Differential diagnosis is important for dijagnoza prema trombocitopenijama druge etiologije je zna- the adequate treatment strategy. The aim of this case re- ÿajna zbog pravilnog izbora terapijskih postupaka. Cilj rada port was to present a patient with MYH9 disorder in bio je prikaz bolesnika sa MYH9 poremeýajem u Srbiji.
    [Show full text]
  • MYH9-Related Disorders Display Heterogeneous Kidney
    MYH9-related disorders display heterogeneous kidney involvement and outcome Nahid Tabibzadeh, Dominique Fleury, Delphine Labatut, Frank Bridoux, Arnaud Lionet, Noemie Jourde-Chiche, François Vrtovsnik, Nicole Schlegel, Philippe Vanhille To cite this version: Nahid Tabibzadeh, Dominique Fleury, Delphine Labatut, Frank Bridoux, Arnaud Lionet, et al.. MYH9-related disorders display heterogeneous kidney involvement and outcome. Clinical Kidney Journal, Oxford University Press, 2019, 12 (4), pp.494-502. 10.1093/ckj/sfy117. hal-02733835 HAL Id: hal-02733835 https://hal-amu.archives-ouvertes.fr/hal-02733835 Submitted on 2 Jun 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Distributed under a Creative Commons Attribution - NonCommercial| 4.0 International License Clinical Kidney Journal, 2019, vol. 12, no. 4, 494–502 doi: 10.1093/ckj/sfy117 Advance Access Publication Date: 17 December 2018 Original Article Downloaded from https://academic.oup.com/ckj/article-abstract/12/4/494/5250852 by Aix Marseille Université user on 02 June 2020 ORIGINAL ARTICLE
    [Show full text]
  • Nephroquiz 10: a 16-Year-Old Patient with Thrombocytopenia and Kidney Failure
    KIDNEY DISEASES Nephroquiz 10: A 16-Year-Old Patient With Thrombocytopenia and Kidney Failure Maryam Ghazizadeh,1 Matin Ghazizadeh,2 Mohsen Nafar3 IJKD 2017;11:469-71 1Department of Hematology www.ijkd.org and Oncology, Modarres Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2Department of Otorhinolaryngology, Head and Neck Surgery, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 3Chronic Kidney Disease Research Center, Shahid Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran CASE count was adequate. Laboratory tests including A 16-year-old boy was admitted because of erythrocyte sedimentation rate; C-reactive protein; thrombocytopenia, proteinuria, and progressive completements C3, C4, and CH50; antineuclear kidney failure. He also had a history of antibodies, double-stranded DNA, and anti-Ro were recurrent epistaxis, ophthalmologic problems, done considering systemic lupus erythmatosus, and sensorineural hearing loss since childhood. but all of them were negative. Anticardiolipin Family and drug history were unremarkable. antibodies, anti-β2 microglycoprotein, and lupus His hematologic abnormalities were erroneously anticoagulant were negative, so antiphospholipid diagnosed as idiopathic thrombocytopenic antibody syndrome was ruled out. purpura. He had received prednisone for 6 months On the following days, the condition was without any response. Physical examination was complicated by generalized seizure and loss of unremarkable. Complete blood count revealed conciseness. The detected schistocytes in the PBS thrombocytopenia and anemia. Urinalysis showed were 1%. The lactate dehydrogenase level was proteinuria (3+). Serum creatinine was raised up normal primarily; but thereafter, it increased to 10 mg/dL. Kidney biopsy was not performed to 850 U/L. He underwent plasma exchange in because of severe thrombocytopenia.
    [Show full text]
  • (Macro-Thrombocytopenia): Peritoneal
    rology & h T ep h e N r f a o p l e a u n t r i c u s o J Melfa and Scarpioni, J Nephrol Ther 2016, 6:4 ISSN: 2161-0959 Journal of Nephrology & Therapeutics DOI: 10.4172/2161-0959.1000256 Case Report Open Access Renal Failure Due to MYH9-Related Disorder (Macro-Thrombocytopenia): Peritoneal Dialysis as a First Choice Therapy and Kidney Transplant from Living Donor Luigi Melfa* and Roberto Scarpioni Operative Unit Nephrology and Dialysis Piacenza, Piacenza Hospital, Piacenza, Italy *Corresponding author: Luigi Melfa, Operative Unit Nephrology and Dialysis Piacenza, Piacenza Hospital, Vias Taverna 49, Piacenza 29100, Italy, Tel: +393478543282; E-mail: [email protected] Received date: August 03, 2016; Accepted date: August 18, 2016; Published date: August 25, 2016 Copyright: © 2016 Melfa L, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License; which permits unrestricted use; distribution; and reproduction in any medium; provided the original author and source are credited. Introduction limits. However, the exam of cytoskeleton organization showed study- worth alterations. In the subsequent years, platelet count showed MYH9-related disorders, previously distinguished in four values between 6.000/mm3 and 30.000/mm3. Moreover, hemorrhagic syndromes (Epstein syndrome, Fechter syndrome, Sebastian manifestations were not related (epistaxis, menomethrorragia, syndrome, May-Hegglin anomaly) based on the combination of bleeding gums, anemia or petechiae) (Figure 1). different clinical findings at the time of diagnosis; appear to be only one rare nosological entity (MYH9RD). It has been recognized that they are all phenotypic variants due to mutation in MYH9 gene (heterozygous pathogenic variants) and that the clinical findings often worsen throughout life as a result of late onset of non-hematologic manifestations [1].
    [Show full text]
  • MYH9-Related Disease
    Clinical Kidney Journal, 2019, 488–493 doi: 10.1093/ckj/sfz103 Editorial Comment EDITORIAL COMMENT MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy Raul Fernandez-Prado1,2, Sol Maria Carriazo-Julio1,2, Roser Torra2,3, Alberto Ortiz1,2 and Marı´a Vanessa Perez-Gomez1,2 1Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain, 2REDinREN, Instituto de Investigacio´n Carlos III, Madrid, Spain and 3Nephrology Department, Fundacio´ Puigvert, Instituto de Investigaciones Biome´dicas Sant Pau, Universitat Auto` noma de Barcelona, Barcelona, Catalonia, Spain Correspondence and offprint requests to: Alberto Ortiz; E-mail: [email protected] ABSTRACT In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of pathogenic MYH9 mutations may be at least 1 in 20 000. The literature abounds in misdiagnosed cases treated for idiopathic thrombocytopenic purpura with immune suppressants and even splenectomy. Additional manifestations include neurosensorial deafness and proteinuric and hematuric progressive kidney disease (at some point, it was called Alport syndrome with macrothrombocytopenia), leucocyte inclusions, cataracts and liver enzyme abnormalities, resulting in different names for different manifestation combinations (MATINS, May–Hegglin anomaly, Fechtner, Epstein and Sebastian syndromes, and deafness AD 17). The penetrance and severity of kidney disease are very variable, which may obscure the autosomal dominant inheritance. A correct diagnosis will both preclude unnecessary and potentially dangerous therapeutic interventions and allow genetic counselling and adequate treatment.
    [Show full text]
  • Dental Treatment of Patients with Kidney Diseases-Review
    Dental Treatment of Patients with Kidney Diseases-review Halid Sulejmanagić¹* Naida Sulejmanagić¹, &Samir Prohić¹, Sadeta Šečić¹, Sanja Mišeljić² . Clinic for Oral Surgery and Oral Medicine, School of Dental Medicine, University of Sarajevo, Bolnička A, Sarajevo, Bosnia and Herzegovina . Hemodialysis Centre, University Clinics Center, Bolnička , Sarajevo, Bosnia and Herzegovina * Corresponding author Abstract In their practice every dentist is brought into a situation to treat patients with grossly im- paired kidney function. Kidney diseases, whether acute or acquired, imply a number of body dysfunctions such as prolonged bleeding, high blood pressure, infection tendency etc. which, in turn, pose a threat involving serious complications in cases of dental interventions in these patients. Th e aim of this article is to provide a review of current dental practice in patients with kidney disease. Th is implies dental intervention and preparations of patients with chronic renal disease, nephritic syndrome, patients on dialysis, and patients with kid- ney transplants. Certainly, cooperation between the dentist and nephrologist is an impera- tive for the appropriate dental treatment of patients with grossly impaired renal function. KEY WORDS: kidney disease, dialysis, transplantation, dental treatment BOSNIAN JOURNAL OF BASIC MEDICAL SCIENCES 2005; 5 (1): 52-56 HALID SULEJMANAGIĆ ET AL.: DENTAL TREATMENT OF PATIENTS WITH KIDNEY DISEASES Introduction old. Th ey show characteristic tendency to infection (). So-called Epstein’s syndrome is well described in litera- Kidney is an organ responsible for a set of com- ture. It is an idiopathic nephritic syndrome with typical plex functions in the body and they are as follows: changes in oral mucus of newborns in the form of salty, pseudo-diphteric layers stretching over the soft palate - excretion of metabolic waste products, in the shape of butterfl y.
    [Show full text]
  • Congenital Macrothrombocytopenic Thrombopathy and Nephritis (Epstein Syndrome-Variant)
    CONGENITAL MACROTHROMBOCYTOPENIC THROMBOPATHY AND NEPHRITIS (EPSTEIN SYNDROME-VARIANT) Mohammad I. Quadri, MD, PhD; Muzzafar Ahmad, MD; Kefah A. Senan, CABP; Iman H. Al-Sheikh, MBBS, MD Hereditary macrothrombocytopenic thrombocytopenia is a 27x 109/L but manual platelet count was 78xl09/L. Blood heterogeneous disorder.1 Diseases associated with cell analyzers were unable to record the mean platelet congenital macrothrombocytopenic thrombopathy may be volume or platelet distribution width and read these large inherited as autosomal recessive or autosomal dominant platelets as clumps. The Sysmex NE 8000 platelet traits.1 Epstein syndrome, a variant of Alport syndrome, histogram showed most of the platelets as more than 20 fL comprises the triad of macrothrombocytopenia, nephritis in size. Bone marrow aspiration revealed an increased and deafness.2,3 The thrombocytopenia in this disorder is number of megakaryocytes, and both mature platelet- usually severe, and can be misdiagnosed as immune or producing megakaryocytes and early forms with basophilic idiopathic thrombocytopenic purpura in early childhood cytoplasm were present. Some of the early forms had when other features of the syndrome have not yet appeared. vacuolated cytoplasm. Otherwise no significant We describe two members of a family (father and son), morphological abnormalities were seen. Prednisolone was both with hereditary macrothrombocytopenic thrombo- tapered and stopped after two weeks. The platelet count pathy, as well as renal failure in the father. ranged between 20-35x109/L thereafter. The infant’s family history was reviewed at this stage. Case Report The child was born to a young Saudi couple with second- degree consanguinity. The mother denied taking any A baby boy was born to a 27-year-old (G3 P2) mother medication during the pregnancy.
    [Show full text]