DOCSLIB.ORG

Epstein's Syndrome: Case Report and Survey of the Literature

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Epstein's Syndrome: Case Report and Survey of the Literature Postgrad Med J: first published as 10.1136/pgmj.63.741.573 on 1 July 1987. Downloaded from Postgraduate Medical Journal (1987) 63, 573-575 Epstein's syndrome: case report and survey ofthe literature G.R. Standen, J. Saunders', J. Michael2 and A.L. Bloom Department ofHaematology, University Hospital of Wales, Heath Park, CardifCF4 4XN, 'Nevill Hall Hospital, Abergavenny, Gwent NP2 7EC and2Queen Elizabeth Medical Centre, Edgbaston, Birmingham BJ5 2TH, UK. Summary: A diagnosis of Epstein's syndrome was made in a young female with congenital macrothrombopathic thrombocytopenia, a nephropathy and mild sensorineural deafness. Previous case reports ofthis rare disorder are briefly reviewed and attention is drawn to the frequent association between inherited thrombocytopenia and renal disease. Introduction Alport's syndrome in its classical form is characterized as a dominant inherited disorder in which nephritis is associated with high tone sensorineural deafness. 2 Other rare abnormalities occasionally recognized in affected patients include polyneuropathy, hyper- prolinaemia and icthyosis3 and ocular defects such as retinitis pigmentosa, cataracts, lenticonus and sphero- phakia.4 In 1972, Epstein and co-workers5 described copyright. four patients from two kindreds who had hereditary nephritis and nerve deafness indistinguishable from Alport's syndrome in association with macrothrom- bopathic thrombocytopenia. In this report we describe the presentation and clinical course of a young female with this rare disorder. Figure 1 Photomicrograph showing giant platelet http://pmj.bmj.com/ Case report (arrow) in peripheral blood (Wright's stain, mag- nification x 1000). A 22 year old female was initially diagnosed as suffering from idiopathic thrombocytopenia at age 5 years following an uncomplicated fracture of the left femur. There was a history of easy bruising and recurrent epistaxis from birth and several episodes of negative. Because of the severe thrombocytopenia, otitis media in infancy. Further investigation of the platelet aggregation studies could not be performed. A on October 2, 2021 by guest. Protected thrombocytopenia at the age of 13 years showed bone marrow aspirate revealed normal to increased platelet counts of 12-20 x 109/1; bizarre giant forms numbers of megakaryocytes, many of which showed were recognized on the blood film (Figure 1). The abnormal morphology with peripherally localized, bleeding time was prolonged at 13 minutes and the condensed nuclei and poorly granular cytoplasm. prothrombin consumption index slightly increased at There was no evidence of platelet budding. 24%. Other coagulation tests including thrombin From the age of 14 years she suffered recurrent clotting time, one stage prothrombin time, kaolin urinary tract infections and when more fully inves- cephalin clotting time and the thromboplastin screen- tigated at the age of 18 years, microscopic haematuria ing test were normal. Serum immunoglobulins and and heavy proteinuria (12.5 g/1) was recognized. On isohaemagglutinin titres were normal and the antinu- clinical examination she was normotensive with no clear factor antibody and direct Coombs' test were peripheral oedema or abdominal masses palpable. The plasma urea was 2.6 mmol/l and an intravenous Correspondence: G.R. Standen, Ph.D. M.R.C.P. pyelogram was normal. At this time she also com- Accepted: 8 January 1987 plained of difficulty in hearing ip both ears associated C) The Fellowship of Postgraduate Medicine, 1987 Postgrad Med J: first published as 10.1136/pgmj.63.741.573 on 1 July 1987. Downloaded from 574 CLINICAL REPORTS with tinnitus, and audiometry demonstrated a mild, cataracts and cytoplasmic inclusions in neutrophils symmetrical sensorineural deficit. A diagnosis of and eosinophils has been described." In addition, Epstein's syndrome was made on the basis of the there is one report ofa patient with nephritis, deafness macrothrombopathic thrombocytopenia, nephro- and macrothrombocytopenia in association with cys- pathy and sensory deafness. Both parents and two tic medianecrosis of the ascending aorta and malfor- siblings had normal platelet counts and morphology mation ofthe aortic valves.'2 However, acute relapsing and there was no evidence of renal disease or hearing pancreatitis has not been previously recognized as a disorder in the family. complication of Epstein's syndrome. Non-invasive At 21 years of age she was admitted with epigastric radiological investigations of the biliary tract in our pain of 5 days' duration which radiated to the back patient suggested that the pancreatitis was most likely and was associated with vomiting. There was no related to a coexistent chronic cholecystitis and we history of excessive alcohol intake'and she was taking suspect that this probably represents a chance associa- no medication. Apart from epigastric tenderness there tion. However, the possibility that the biliary and/or were no abnormal physical findings. The serum pancreatic pathology is in some way causally related to amylase was elevated at 1550 U/dl and serum bilirubin the underlying gene defect in this multisystem disorder increased at 47 lgmol/l (mainly direct). The serum cannot be entirely excluded. alkaline phosphatase was 91 IU/1, serum albumin 27 g/l, In the original report by Epstein and colleagues, the corrected calcium 2.34 mmol/I and glucose 4.7 mmol/l. platelet defect was characterized by giant forms with An abdominal ultrasound showed an oedematous abnormal ultrastructure and impaired function in pancreas but no pseudocyst formation. The gall terms of decreased glass adherence and diminished bladder wall was thickened but no calculi were aggregation in response to ADP, collagen and adren- visualized in the biliary tree. Both kidneys were highly aline. Similar observations have been made in two echogenic and slightly irregular in contour. A diag- more recently described cases8' 9 and it has been nosis of acute pancreatitis was made which settled on suggested that the giant platelets are derived from conservative treatment. A subsequent oral cholecys- abnormal megakaryocytes in which there is failure of togram showed poor gall bladder contraction after a the demarcation membrane system.7 Normal plateletcopyright. fatty meal but was otherwise normal. One month after budding is impaired and the megakaryocytes undergo the initial episode, she suffered a mild recurrence ofthe degeneration and cytoplasmic fragmentation. The pancreatitis and recovery was again uncomplicated. survival of the macrothrombocytes in vivo has been Currently the serum creatinine is 77 limol/l with a reported to be normal8 and transfused random donor creatinine clearance of 106 ml/min. Heavy proteinuria platelets correct the prolonged bleeding time and persists (1Og/24 h) but the serum albumin has produce significant platelet increments.5 increased to 40 g/l. Neither endoscopic retrograde The renal pathology in Epstein's triad is indistingui- cholangiopancreatography nor renal biopsy have been shable from Alport's syndrome and consists ofscleros- feltjustifiable in view ofthe severe thrombocytopenia. ing and proliferative glomerulonephritis with mesan- http://pmj.bmj.com/ gial cell expansion, interstitial nephritis and fibrosis.5'6'8 Presentation with haematuria and proteinuria is Discussion typical and progression to end stage renal failure between the third and fifth decade frequently ensues. The association of inherited macrothrombopathic Despite the bleeding tendency, however, the feasibility thrombocytopenia, nephritis and sensorineural deaf- of renal transplantation has recently been documen- ness was first described by Epstein in 1972 and five ted.'° more recent reports in the American literature indicate A number of investigators have drawn attention to on October 2, 2021 by guest. Protected that this rare triad is a distinct clinical entity.6 10 In the association between nephritis and other types of common with the majority of previous cases, the familial thrombocytopenia including the May-Heg- platelet defect in the present patient was diagnosed at glin anomaly,'3 familial immune thrombocytopenia'4 an early age and preceded by some years the develop- and the Wiskott-Aldrich syndrome.'5"6 These disor- ment of the nephropathy and mild hearing deficit. ders have been broadly categorized as so-called Analysis of the small number of pedigrees reported 'thromborenal syndromes' but since their inheritance suggests that Epstein's syndrome is transmitted by patterns are variable and both the renal pathology and autosomal dominant inheritance.5' 6 If correct, the platelet defects are heterogeneous, the explanation for absence ofphenotypic abnormalities in the immediate this association remains obscure. Nevertheless, these family members of our patient indicates that her reports suggest that, in clinical practice, care should be disease resulted from a new mutation. taken to exclude an associated nephropathy in any A single kindred in which affected individuals case of inherited thrombocytopenia. showed features of Epstein's triad accompanied by Postgrad Med J: first published as 10.1136/pgmj.63.741.573 on 1 July 1987. Downloaded from CLINICAL REPORTS 575 References 1. Cassady, G., Brown, K., Cohen, M. & De Maria, W. 111-117. Hereditary renal dysfunction and deafness Pediatrics 10. Alving, B.M., Tarassoff, P.G., Moore, J., Leissenger, 1965, 35: 967-979. C.A. & Fernandez-Bueno, C. Successful renal transplan- 2. Crawfurd, M. & Toghill, P.J. Alport's syndrome of tation for Epstein syndrome. Am
Load more

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]
  • 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]
    [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]