Gitelman syndrome: a case report
Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chlori...
Main Authors: | , |
---|---|
Format: | Article |
Language: | fas |
Published: |
Tehran University of Medical Sciences
2012-10-01
|
Series: | Tehran University Medical Journal |
Subjects: | |
Online Access: | http://tumj.tums.ac.ir/browse.php?a_code=A-10-25-100&slc_lang=en&sid=1 |
id |
doaj-2bafc12d542446a6bfdc16825bbfa0a5 |
---|---|
record_format |
Article |
spelling |
doaj-2bafc12d542446a6bfdc16825bbfa0a52020-11-24T23:13:39ZfasTehran University of Medical SciencesTehran University Medical Journal1683-17641735-73222012-10-01707457459Gitelman syndrome: a case reportRazaghy-azar M0Tabatabaei F1 Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chloride co-transporter in distal convoluted tubule causes electrolyte imbalance.Case presentation: We present a 10-year-old boy complaining of carpopedal spasms, tingling of fingers and facial parestesia for three years prior to his admission in endocrinology clinic of H. Ali-Asghar Pediatric Hospital. The patient had metabolic alkalosis, hypokalemia, hypocalciuria, increased urine fraction excretion of Mg, serum magnesium of 1.8 mg/dl, normal serum calcium and phosphorus and normal blood pressure. His clinical manifestations recovered after potassium and magnesium administration.Conclusion: A patient with Gitelman syndrome with normal serum Mg. is presented.http://tumj.tums.ac.ir/browse.php?a_code=A-10-25-100&slc_lang=en&sid=1Gitelman syndromehypocalciuriahypokalemiahigh urine Mgmetabolic alkalosis |
collection |
DOAJ |
language |
fas |
format |
Article |
sources |
DOAJ |
author |
Razaghy-azar M Tabatabaei F |
spellingShingle |
Razaghy-azar M Tabatabaei F Gitelman syndrome: a case report Tehran University Medical Journal Gitelman syndrome hypocalciuria hypokalemia high urine Mg metabolic alkalosis |
author_facet |
Razaghy-azar M Tabatabaei F |
author_sort |
Razaghy-azar M |
title |
Gitelman syndrome: a case report |
title_short |
Gitelman syndrome: a case report |
title_full |
Gitelman syndrome: a case report |
title_fullStr |
Gitelman syndrome: a case report |
title_full_unstemmed |
Gitelman syndrome: a case report |
title_sort |
gitelman syndrome: a case report |
publisher |
Tehran University of Medical Sciences |
series |
Tehran University Medical Journal |
issn |
1683-1764 1735-7322 |
publishDate |
2012-10-01 |
description |
Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chloride co-transporter in distal convoluted tubule causes electrolyte imbalance.Case presentation: We present a 10-year-old boy complaining of carpopedal spasms, tingling of fingers and facial parestesia for three years prior to his admission in endocrinology clinic of H. Ali-Asghar Pediatric Hospital. The patient had metabolic alkalosis, hypokalemia, hypocalciuria, increased urine fraction excretion of Mg, serum magnesium of 1.8 mg/dl, normal serum calcium and phosphorus and normal blood pressure. His clinical manifestations recovered after potassium and magnesium administration.Conclusion: A patient with Gitelman syndrome with normal serum Mg. is presented. |
topic |
Gitelman syndrome hypocalciuria hypokalemia high urine Mg metabolic alkalosis |
url |
http://tumj.tums.ac.ir/browse.php?a_code=A-10-25-100&slc_lang=en&sid=1 |
work_keys_str_mv |
AT razaghyazarm gitelmansyndromeacasereport AT tabatabaeif gitelmansyndromeacasereport |
_version_ |
1725597419356291072 |