DOCSLIB.ORG

Gitelman Syndrome Consensus from a KDIGO Controversies Conference

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

ERKNet Gitelman Syndrome Consensus from a KDIGO Controversies Conference Rosa Vargas-Poussou ERKNet Gitelman syndrome KDIGO consensus Anne Blanchard Paris, France Detlef Bockenhauer London, UK Davide Bolignano Calabria, Italy Lorenzo A. Calo Padova, Italy Etienne Cosyns Wanze, Belgium Olivier Devuyst Zurich, Switzerland David H. Ellison Portland, Oregon, USA Fiona E. Karet Frankl Cambridge, UK Nine V.A.M. Knoers Utrecht, The Netherlands Martin Konrad Münster, Germany Shih-Hua Lin Taipei, Taiwan Rosa Vargas-Poussou Paris, France Kidney International (2017) 91, 24–33; http://dx.doi.org/10.1016/j.kint.2016.09.046 ERKNet Gitelman Syndrome • Salt losing tubulopathy • Autosomal recessive inheritance • Prevalence: 1 to 10 per 40,000 • Most frequent inherited tubulopathy ERKNet Distal convoluted tubule Thiazides Cl - Na+ Na+ K+ K+ Kir4.1 Ca2+ Cl- Ca2+ Kv1.1 K+ Na+ Ca2+ TRPM6 HNF1Beta Mg2+ + Na+ Na 2+ H+ Mg Reabsorption: Na+ 7% Ca2⁺ and Mg2⁺ 10% ERKNet Pendrine + - Na - Cl + - Cl - K Cl HCO3 Thiazides + Na + - Na Cl + + - 2⁺ Na K 2+ HCO3 Mg 10% Ca Cl- Na+ 7% 2+ Ca2+ Ca + - + Na Cl - H Mg2+ HCO3 Mg2+ + + + Na + Na H+ Na Na NDCBE 70% + + - H H HCO3 HCO3 Hypomagnesemia - Cl Na+ ACII 20% Hypocalciuria + + 2⁺ + K Na Mg H Na + K+ 2% 70% CO H O 2 2 2Cl - Na+ Furosemide Na+ K+ K+ (-) (+) K+ Cl - Amiloride ENaC Barttine + - + Na Cl Na + K K+ K+ + + - H Na HCO3 ++ + K+ Aldostérone Ca Na Chronic hypovolemia Mg++ + NH4 H O Claudines 2 (-) RM H2O (+) Vte Hypokalemia. Metabolic alkalosis ERKNet Gitelman syndrome • Mainly in adolescents and adults 9.5% 16% 7% Med IQR: 25 (14-38) ERKNet Low blood pressure Asymptomatic Salt loss Fortuitous detection of hypokalemia salt craving muscle weakness fatigue cramps constipation tetanic episodes Prolonged QT Hypokalemia Hypomagnesemia Abdominal pain carpopedal spasms chondrocalcinosis rhabdomyolysis Glucose intolerance/ Insulin resistance Sclerochoroidal calcifications ventricular arrhythmias. Clinical Manifestations ERKNet Salt craving, cramps, muscle weakness, fatigue, dizzines, nocturia, palpitations, Most common paresthesia, thirst, polydipsia, low BP > 50% Fainting, polyuria, arthralgia, chondrocalcinosis, prolonged QT, Prominent febrile episodes 20 - 50% Early onsent, failure to thrive, pubertal delay, vertigo, ataxia, carpopedal spasm, tetany, Occasional vomiting, constipation, enuresis paralysis < 20 % Seizure, tachycardia, rhabdomyolisis, pseudotumor cerebri, sclerochoroidal Rare calcifications (case reports) Criteria for diagnosis ERKNet Minimal Blood Urines K < 3.5 mmol/L K/creat. > 2 mmol/mmol Chronic Renal Hypokalemia > 18 mmol/g Metabolic Alkalosis Bicarbonate > 28 mmol/l Cl wasting Fractional Exc Cl > 0.5% Frequent (their absence does not exclude the diagnosis) Blood Urines Chronic Renal Mg <0.7 mmol/l Fractional Exc Mg >4% Hypomagnesemia [<1.70 mg/dl] Hypocalciuria Ca/creat. <0.2 mmol/mmol <0.07 mg/mg Hyperreninism High plasma renin Low or normal blood pressure Normal renal ultrasound ERKNet Differential diagnosis Renal 1. Classic Bartter syndrome Thiazides Cl - Na+ Na+ K+ K+ Kir4.1 2. Diseases associated with Ca2+ Cl- mutations of the HNF1B gene Ca2+ Kv1.1 K+ Na Ca2+ TRPM6 HNF1Beta + 3. EAST syndrome Mg2+ + Na+ H+ Na Mg2+ 4. Autoimmune disorders 5. Diuretics Extrarenal 1. Cystic Fibrosis 2. Chronic vomiting 3. Laxative abuse ERKNet Genetic diagnosis • Established diagnosis • Accredited lab – Biallelic mutations in the • Techniques SLC12A3 gene – Sanger • Adapted follow-up – MLPA • Counselling • NGS panel • Whole exome/genome Genetic diagnosis ERKNet Sequencing + MLPA 1198 probands Mutations 3% 6% 6% 6% 12% 13% 14% 55% 55% 16% 14% Missense (n=158) Compound heterozygous (n = 697) Frameshift (n=39) Homozygous (n = 174) Splicing (n=28) one heterozygous mutation (n = 127) Nonsens (n=18) No mutation (n = 165) CLCNKB (n=35) Inframe (n=7) Grands réarrangements (n=18) Mutation detection rate 88% ERKNet Treatment 1 • ad libitum NaCl intake • Individualized lifelong oral Side effects Symptoms supplementation Fatigue – Potassium (target 3.0 mmol/l) Cramps • KCl 40 mmol / 1-2 mmol/kg in Ulcer children Vomiting Muscle – Magnesium (target 0.6 mmol/l) diarrhea weakness • 300 mg/day • Avoid drugs associated with hypokalemia and hypomagnesemia • Education Treatment 2 ERKNet • Potassium-sparing diuretics, Indomethacin • RAS inhibitors 75 mg/day 150 mg/day 20 mg/day Blanchard A et al. JASN 2015 doi:10.1681/ASN.2014030293 ERKNet Benign tubulopathy ? • Reduction of quality of • Annual follow-up in a life nephrology clinic: monitoring complications • Growth retardation – Renal function/proteinuria • Chondrocalcinosis – ECG • Ventricular arrhythmia – Glycaemia – Ultrasound X- ray • Hypertension – Ophthalmology exam. • Glucose intolerance • Cardiology workup ERKNet Knowledge gaps and research questions for Gitelman syndrome 1 • Blood pressure control, • Genetic aspects – hypertension – Genetic heterogeneity, • Cardiovascular complications: causal/modifier – conduction, myocardium, predictive – pathogenicity of variants effort ECG, reproducibility, age effect, – Prevalence of SLC12A3 mutations QT interval, and electrolyte levels in exome database • Metabolic complications: – Effect of the carrier state, – glucose tolerance, role of magnesium geographic variations balance – Genotype-phenotype correlations, • Patient-related outcomes – Sex effect – Quality of life, disability, sociology, – Establishing prevalence of the perception of symptoms disease and the carrier state – Disability scores – Self-management techniques ERKNet Knowledge gaps and research questions for Gitelman syndrome 2 • Intervention • Outcome and natural history – Effect of high NaCl supplementation – Registry, biobanking – Effect of sport, increased muscular – Growth, activity, sports mass, potassium supplementation after – Glucose intolerance and metabolic exercise profile – Optimal target values for K and Mg – Renal function, concentration defect, • Mother and child proteinuria, chronic kidney disease, cysts – Pregnancy and fetal development – Cardiovascular complications • Monitoring – Rare complications: pseudotumor – non-invasive, frequency, possible cerebri, pectus excavatum, link with transcutaneous measurements autoimmunity ERKNet Conclusion • Described 1966 • Long-term studies to assess • Genetics 1996 the natural history • Clinical variability • Prevalence of complications • Complications • Evidence-based treatments • Causes of variability ERKNet Sick day rules 1 • Do not stop medication • Medical advice if : • If you feel unwell, chek your – pass out/faint K and Mg – become dizzy • If diarrhea or vomiting, é – develop tingling or muscle weakness fluid intake and add salt to – notice an irregular heartbeat anything you drink (palpitations) • Medical advice if you – have painful muscular spasms cannot keep anything down – unusual symptoms for 24 h .
Recommended publications
  • Reframing Psychiatry for Precision Medicine

    Reframing Psychiatry for Precision Medicine

    Reframing Psychiatry for Precision Medicine Elizabeth B Torres 1,2,3* 1 Rutgers University Department of Psychology; [email protected] 2 Rutgers University Center for Cognitive Science (RUCCS) 3 Rutgers University Computer Science, Center for Biomedicine Imaging and Modelling (CBIM) * Correspondence: [email protected]; Tel.: (011) +858-445-8909 (E.B.T) Supplementary Material Sample Psychological criteria that sidelines sensory motor issues in autism: The ADOS-2 manual [1, 2], under the “Guidelines for Selecting a Module” section states (emphasis added): “Note that the ADOS-2 was developed for and standardized using populations of children and adults without significant sensory and motor impairments. Standardized use of any ADOS-2 module presumes that the individual can walk independently and is free of visual or hearing impairments that could potentially interfere with use of the materials or participation in specific tasks.” Sample Psychiatric criteria from the DSM-5 [3] that does not include sensory-motor issues: A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
  • Bronson Healthcare Midwest Epic Review of Systems 10.3

    Bronson Healthcare Midwest Epic Review of Systems 10.3

    Bronson HealthCare Midwest Epic Review of Systems 10.3 Constitution Endocrine Activity Change Y N Cold intolerance Y N Appetite Change Y N Heat intolerance Y N Chills Y N Polydipsia Y N Diaphoresis Y N Polyuria Y N Fatigue Y N GU Fever Y N Difficulty urinating Y N Unexpctd wt chnge Y N Dyspareunia Y N HENT Dysuria Y N Facial Swelling Y N Enuresis Y N Neck pain Y N Flank pain Y N Neck stiffness Y N Frequency Y N Ear Discharge Y N Genital Sore Y N Hearing loss Y N Hematuria Y N Ear pain Y N Menstrual problem Y N Tinnitus Y N Pelvic pain Y N Nosebleeds Y N Urgency Y N Congestion Y N Urine decreased Y N Rhinorrhea Y N Vaginal bleeding Y N Postnasal drip Y N Vaginal discharge Y N Sneezing Y N Vaginal pain Y N Sinus Pressure Y N Musc Dental problem Y N Arthralgias Y N Drooling Y N Back pain Y N Mouth sores Y N Gait problem Y N Sore throat Y N Joint swelling Y N Trouble swallowing Y N Myalgias Y N Voice Change Y N Skin Eyes Color change Y N Eye Discharge Y N Pallor Y N Eye itching Y N Rash Y N Eye pain Y N Wound Y N Last Name: ___________________________________ First Name: ______________________________________ Date of Birth: _____________________________ Today’s Date: __________________________________________ Bronson HealthCare Midwest Epic Review of Systems 10.3 Eye redness Y N Allergy/Immuno Photophobia Y N Env allergies Y N Visual disturbance Y N Food Allergies Y N Respiratory Immunocompromised Y N Apnea Y N Neurological Chest tightness Y N Dizziness Y N Choking Y N Facial asymmetry Y N Cough Y N Headaches Y N Shortness of breath Y N Light-headedness
  • W10: Causes and Co-Morbidities of Nocturia Workshop Chair: An-Sofie Goessaert, Belgium 12 September 2017 09:00 - 10:30

    W10: Causes and Co-Morbidities of Nocturia Workshop Chair: An-Sofie Goessaert, Belgium 12 September 2017 09:00 - 10:30

    W10: Causes and Co-morbidities of Nocturia Workshop Chair: An-Sofie Goessaert, Belgium 12 September 2017 09:00 - 10:30 Start End Topic Speakers 09:00 09:20 Phenotyping Nocturia – Judge a Book by its Cover? An-Sofie Goessaert 09:20 09:40 Sleep and Nocturia – Central Mechanisms into Business? Karlien Dhondt 09:40 10:00 Bladder and Kidney – Making the Bladder Gladder or Lowering Philip Van Kerrebroeck the Water Levels? 10:00 10:20 Questionnaire on Nocturia – to TANGO or Not to TANGO? Wendy Bower 10:20 10:30 Questions All Speaker Powerpoint Slides Please note that where authorised by the speaker all PowerPoint slides presented at the workshop will be made available after the meeting via the ICS website www.ics.org/2017/programme Please do not film or photograph the slides during the workshop as this is distracting for the speakers. Aims of Workshop Nocturia is a highly prevalent condition affecting both men and women of all ages. It is no longer a problem merely attributed to overactive bladder or benign prostate hyperplasia. There can be an impairment in one or more factors of the triad brain-kidney- bladder but also other factors such as obesity, hypertension, peripheral edema, sleep disturbance, depression, medication, etc can play a role. The objective of this workshop is to provide an overview on causes and co-morbidities of nocturia and how to identify them. Learning Objectives This workshop should allow the attendant to know the answers to following questions: 1. What physical features can help you to identify possible causes or co-morbidities of nocturia? 2.
  • Prevalence and Incidence of Rare Diseases: Bibliographic Data

    Prevalence and Incidence of Rare Diseases: Bibliographic Data

    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
  • Orphanet Report Series Rare Diseases Collection

    Orphanet Report Series Rare Diseases Collection

    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
  • A 27-Month-Old Boy with Polyuria and Polydipsia

    A 27-Month-Old Boy with Polyuria and Polydipsia

    UC Davis UC Davis Previously Published Works Title A 27-Month-Old Boy with Polyuria and Polydipsia. Permalink https://escholarship.org/uc/item/8x24x4p2 Authors Lee, Yvonne Winnicki, Erica Butani, Lavjay et al. Publication Date 2018 DOI 10.1155/2018/4281217 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Hindawi Case Reports in Pediatrics Volume 2018, Article ID 4281217, 4 pages https://doi.org/10.1155/2018/4281217 Case Report A 27-Month-Old Boy with Polyuria and Polydipsia Yvonne Lee,1 Erica Winnicki,2 Lavjay Butani ,3 and Stephanie Nguyen 3 1Department of Pediatrics, Section of Endocrinology, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA 2Department of Pediatrics, Section of Nephrology, University of California, San Francisco, San Francisco, CA, USA 3Department of Pediatrics, Section of Nephrology, University of California, Davis, Sacramento, CA, USA Correspondence should be addressed to Stephanie Nguyen; [email protected] Received 16 May 2018; Accepted 1 August 2018; Published 23 August 2018 Academic Editor: Anselm Chi-wai Lee Copyright © 2018 Yvonne Lee 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. Psychogenic polydipsia is a well-described phenomenon in those with a diagnosed psychiatric disorder such as schizophrenia and anxiety disorders. Primary polydipsia is differentiated from psychogenic polydipsia by the lack of a clear psychotic disturbance. We present a case of a 27-month-old boy who presented with polyuria and polydipsia. Laboratory studies, imaging, and an observed water deprivation test were consistent with primary polydipsia.
  • Dendrites and Disease Daniel Johnston, Andreas Frick, and Nicholas Poolos

    Dendrites and Disease Daniel Johnston, Andreas Frick, and Nicholas Poolos

    OUP-FIRST UNCORRECTED PROOF, October 5, 2015 Chapter 24 Dendrites and disease Daniel Johnston, Andreas Frick, and Nicholas Poolos Summary While the functional properties of dendrites in the normal brain are the main focus of this book, there is a long history of research related to changes in dendrites that are associated with certain neurological, psychiatric, and developmental disorders. Much of this research has documented morphological changes in dendritic structure, but a significant increase in work has appeared since the second edition of this book in which changes in dendritic function have been described. In this chapter we briefly review some of the research relating structural changes in dendrites to disease, sufficient to provide a beginning reference source for readers interested in pursuing the subject further. The bulk of this chapter, however, will focus on the current state of knowledge related to dendritic “channelopathies.” These are defined as genetic or acquired defects in the normal func- tion or expression of ion channels (with a focus on voltage-gated ion channels) that are known to regulate how neuronal dendrites process and store information. The most specific and detailed information is available for epilepsy, which will be discussed at some length, but other data will be presented for certain neurodevelopmental disorders (e.g., autism, fragile X syndrome) and dis- eases of the adult and aging brain. Based on our knowledge of the normal properties of dendrites, we provide a framework for understanding how dendritic channelopathies can influence synaptic integration and plasticity and thus form the basis of abnormal brain function. Introduction Abnormalities in dendritic structure are a characteristic feature of many brain disorders.
  • Guidance on the Clinical Management of Acute and Chronic Harms of Club Drugs and Novel Psychoactive Substances NEPTUNE

    Guidance on the Clinical Management of Acute and Chronic Harms of Club Drugs and Novel Psychoactive Substances NEPTUNE

    Novel Psychoactive Treatment UK Network NEPTUNE Guidance on the Clinical Management of Acute and Chronic Harms of Club Drugs and Novel Psychoactive Substances NEPTUNE This publication of the Novel Psychoactive Treatment UK Network (NEPTUNE) is protected by copyright. The reproduction of NEPTUNE guidance is authorised, provided the source is acknowledged. © 2015 NEPTUNE (Novel Psychoactive Treatment UK Network) 2015 Club Drug Clinic/CAPS Central and North West London NHS Foundation Trust (CNWL) 69 Warwick Road Earls Court SW5 9HB http://www.Neptune-clinical-guidance.com http://www.Neptune-clinical-guidance.co.uk The guidance is based on a combination of literature review and expert clinical con sensus and is based on information available up to March 2015. We accept no responsi bility or liability for any consequences arising from the use of the information contained in this document. The recommended citation of this document is: Abdulrahim D & Bowden-Jones O, on behalf of the NEPTUNE Expert Group. Guidance on the Management of Acute and Chronic Harms of Club Drugs and Novel Psychoactive Substances. Novel Psychoactive Treatment UK Network (NEPTUNE). London, 2015. NEPTUNE is funded by the Health Foundation, an independent charity working to improve the quality of health care in the UK. Editorial production and page design by Ralph Footring Ltd, http://www.footring.co.uk NEPTUNE NEPTUNE (Novel Psychoactive Treatment UK Network): Expert Group members NEPTUNE Expert Group Dr Owen Bowden-Jones Neptune Chair Clinical and programme lead Consultant
  • Pheochromocytoma Presenting with Polydipsia And

    Pheochromocytoma Presenting with Polydipsia And

    OLGU SUNUMLARI (Case Reports) PHEOCHROMOCYTOMA PRESENTING WITH POLYDIPSIA AND POLYURIA IN A CHILD Poliüri ve polidipsi ile gelen feokromasitomalý çocuk: Olgu sunumu Ali Baykan1, Nazmi Narin1, Mustafa Kendirci1, Mustafa Akcakus1, Mustafa Küçükaydýn2, Tahir Patýroðlu3 Abstract : Pheochromocytomas are rare tumors in childhood Özet : Feokromositoma çocukluk çaðýnda nadir görülen and can mimic many unrelated diseases due to their various tümörlerdendir ve farklý semptomlarý ile birçok hastalýðý presenting symptoms. While hypertension is the most taklit edebilir. Hipertansiyon feokromositomada en sýk bulgu prevalent finding of pheochromocytomas, polyuria and olmasýna raðmen, poliüri-polidipsi nadir ve ilginç polydipsia are rare and interesting symptoms. In this study we presented a child with unilateral pheochromocytoma, semptomlardýr. Bu yazýda tek taraflý feokromositomalý, ilk whose first symptoms were polyuria-polydipsia, and semptomu poliüri-polidipsi olan ve fizik muayenede hypertension, which were important clues for hipertansiyon tespit edilen vaka takdim edilmiþtir. Klinik ve pheochromocytoma. With the help of clinical and laboratory laboratuar bulgularý ile taný konulan olguda cerrahi findings, patient was diagnosed as pheochromocytoma and rezeksiyon sonrasý bulgu ve belirtiler kayboldu. Multipl referred to surgery; with the removal of the tumor the symptoms disappeared. When the family members were endokrin neoplazi (MEN) açýsýndan aile bireyleri tarandý screened for multiple endocrine neoplasia (MEN) syndromes, ve kýz kardeþine de feokromositoma tanýsý konularak opere a bilateral pheochromocytoma was diagnosed in his sister edildi. Bu makale ile poliüri ve polidipsinin and she was also operated on immediately. In this article feokromositomanýn ilk semptomlarý olabileceðini, ilk we emphasized that polyuria-polydipsia may be the first muayenede tansiyon ölçülmesinin önemini ve symptoms of pheochromocytoma in children, the importance of blood pressure measurement in initial physical examination feokromositomanýn ailesel olabileceðini vurgulamak istedik.
  • Epilepsy, Ataxia, Sensorineural Deafness

    Epilepsy, Ataxia, Sensorineural Deafness

    SCO0010.1177/2050313X17723549SAGE Open Medical Case ReportsPapavasiliou et al. 723549case-report2017 SAGE Open Medical Case Reports Case Report SAGE Open Medical Case Reports Volume 5: 1 –6 Epilepsy, ataxia, sensorineural deafness, © The Author(s) 2017 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav tubulopathy syndrome in a European child https://doi.org/10.1177/2050313X17723549DOI: 10.1177/2050313X17723549 with KCNJ10 mutations: A case report journals.sagepub.com/home/sco Antigone Papavasiliou1, Katerina Foska1, John Ioannou1 and Mato Nagel2 Abstract Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. Case Report: A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. The patient was heterozygous for two KCNJ10 mutations: a missense mutation (p.R65C) that is already published and a not yet published duplication (p.F119GfsX25) that creates a premature truncation of the protein. Both mutations are likely damaging. Parental testing has not been performed, and therefore, we do not know for certain whether the mutations are on different alleles. This young man presents some clinical and laboratory features that differ from previously reported patients with epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Conclusion: The necessity of accurate diagnosis through genetic testing in patients with static motor disorders resembling cerebral palsy phenotypes, atypical clinical features and noncontributory neuroimaging is emphasized.
  • Patient Intake Form

    Patient Intake Form

    Patient Intake Form Complete this form before your first appointment at Reno Tahoe Pain Associates. Your careful answers will help us to understand your pain problem and design the best treatment program for you. You may feel concerned about what happens to the information you provide, as much of it is personal. Our records are strictly confidential. No outsider is permitted to see your case record without your written permission unless we are required to do so by law (e.g., Workman’s Compensation Claims). Name Date Age Height Weight Would you like a clinical summary of today's visit? No Yes CHARACTERISTICS OF PAIN (Chief Complaint). What is the reason for your visit at Reno Tahoe Pain Associates? New onset symptom evaluation Initial evaluation Follow-up evaluation Ongoing management Visit reason (describe) _________________________________________________________________ HISTORY OF PRESENT ILLNESS Pain Location Please describe the location(s) of your pain: . Please mark the location(s) of your pain on the diagrams above with an "X." If whole areas are painful, please shade in the painful area. 1 2 Pain Duration How long have you had your current pain problem(s)? weeks months years Onset of Pain (Cause) How did your current pain start? Onset during (describe) Abrupt Gradual Insidious At rest Following exposure to ill person Following infection Exertion-related Sport related Work related Trauma related Motor vehicle injury Symptom course after onset Progressively improved Worsened then improved Became Intermittent Were variable Waxed then
  • Renal Phenotype in Mice Lacking the Kir5.1 (Kcnj16) K Channel Subunit

    Renal Phenotype in Mice Lacking the Kir5.1 (Kcnj16) K Channel Subunit

    Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome Marc Paulaisa,b,1, May Bloch-Faurea,b, Nicolas Picarda,b, Thibaut Jacquesb,c, Suresh Krishna Ramakrishnana,b, Mathilde Kecka,b, Fabien Soheta,b, Dominique Eladaria,b,c,d, Pascal Houilliera,b,c,d, Stéphane Lourdela,b, Jacques Teulona,b, and Stephen J. Tuckere aUniversité Pierre et Marie Curie Paris 6, Université Paris 5, and Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche en Santé 872, 75006 Paris, France; bCentre National de la Recherche Scientifique, Équipes de Recherche Labellisées 7226, Genomics Physiology, and Renal Physiopathology Laboratory, Centre de Recherche des Cordeliers, 75270 Paris 6, France; cFaculty of Medicine, Université Paris–Descartes, 75006 Paris, France; dAssistance Publique–Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France; and eClarendon Laboratory and Department of Physics, University of Oxford, Oxford OX1 3PU, United Kingdom Edited by Maurice B. Burg, National Heart, Lung, and Blood Institute, Bethesda, MD, and approved May 9, 2011 (received for review January 31, 2011) The heteromeric inwardly rectifying Kir4.1/Kir5.1 K+ channel underlies encodes the Kir4.1 subunit, underlie SeSAME/EAST syndrome, the basolateral K+ conductance in the distal nephron and is extremely a rare disorder in which patients experience neurological and sensitive to inhibition by intracellular pH. The functional importance renal symptoms (11, 12). In the kidney, it is thought that these of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by loss-of-function mutations in Kir4.1 impair the function of het- mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, eromeric Kir4.1/Kir5.1 channels (13, 14), thereby dramatically sensorineural deafness, ataxia, mental retardation, and electrolyte impairing salt reuptake from the DCT, and increasing down- imbalance (SeSAME)/epilepsy, ataxia, sensorineural deafness, and re- stream K+ and H+ secretion.