Document Detail


A rare case of Gitelman's syndrome presenting with hypocalcemia and osteopenia.
MedLine Citation:
PMID:  16075932     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gitelman's syndrome (GS), an autosomal recessive disorder caused by a defect of the thiazide-sensitive Na-Cl cotransporter (TSC) at the distal tubule, is characterized by hyperreninemic hyperaldosteronism with normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. An 18-yr-old Japanese man was admitted to our hospital with a history of muscle weakness and transient tetanic episodes. He showed hypocalcemia in addition to hypokalemia, severe hypomagnesemia, hypocalciuria and hyperreninemic hyperaldosteronism with normal blood pressure. Furthermore, bone mineral density at the lumbar spine revealed osteopenia. A diagnosis of GS was made on the basis of clinical features, laboratory data and renal function test. The electrolyte imbalance was corrected and bone mineral density was slightly increased with chronic treatment of magnesium and potassium salts. Genetic analysis revealed that TSC gene of the patient has a heterozygous C to A nucleotide substitution at position 545 in exon 4, which causes a threonine (Thr) to lysine (Lys) substitution at position 180. This is a rare case of GS with hypocalcemia and osteopenia which could be caused by severe hypomagnesemia.
Authors:
A Nakamura; C Shimizu; S Nagai; S Taniguchi; M Umetsu; T Atsumi; N Yoshioka; Y Ono; T Tajima; M Kubo; T Koike
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of endocrinological investigation     Volume:  28     ISSN:  0391-4097     ISO Abbreviation:  J. Endocrinol. Invest.     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-08-03     Completed Date:  2005-10-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7806594     Medline TA:  J Endocrinol Invest     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  464-8     Citation Subset:  IM    
Affiliation:
Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Bartter Syndrome / complications*,  diagnosis*,  genetics
Bone Diseases, Metabolic / etiology*
Diagnosis, Differential
Humans
Hypocalcemia / etiology*
Male
Mutation
Receptors, Drug / genetics*
Sodium Chloride Symporters
Symporters / genetics*
Syndrome
Chemical
Reg. No./Substance:
0/Receptors, Drug; 0/SLC12A3 protein, human; 0/Sodium Chloride Symporters; 0/Symporters; 0/thiazide receptor

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