Document Detail

Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.
MedLine Citation:
PMID:  19050915     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Progressive renal failure in patients with classic Bartter's syndrome (cBS) due to inactivating mutations in CLCNKB gene is extraordinarily rare.
DISCUSSION: We describe a 17-year-old Chinese boy who presented with progressive muscle weakness and renal failure. He was diagnosed as BS of unknown type at the age of 9 months and treated with indomethacin (2 mg/kg/day) and potassium chloride (KCl) supplementation (1.5 mEq/kg/day) for hypokalemia (2.5 mmol/l). At the age of 12 years, serum K+ was 3.0 mmol/l and creatinine reached 2.0 mg/dl. On admission, his blood pressure was normal but volume status was depleted. Urinalysis was essentially normal. Biochemical studies showed hypokalemia (K+ 2.4 mmol/l) with a high transtubular K+ gradient (TTKG) 9.6, metabolic alkalosis (HCO3- 28.4 mmol/l), normomagnesemia (2.0 mg/dl), severe renal failure (BUN 94 mg/dl, Cr 6.3 mg/dl), and hypocalciuria (urine calcium/creatinine ratio 0.02 mg/mg). Abdominal sonography revealed bilateral small size kidneys without nephrocalcinosis or renal stones. After the withdrawal of indomethacin with regular KCl and adequate fluid supplementation for 1 year, serum creatinine and K+ levels have been maintained at 4.0 mg/dl and 3.3 mmol/l, respectively. Direct sequencing of NKCC2, ROMK, ClC-Kb, and NCCT in this patient disclosed a novel homozygous missense mutation (GGG to GAG, G470E) in CLCNKB. This G470E mutation was not identified in 100 healthy Chinese subjects. Long-term therapy of non-steroidal anti-inflammatory drugs (NSAIDs), prolonged hypokalemia, chronic volume depletion, and underlying genetic variety may contribute to the deterioration of his renal function. The cautious use of NSAIDs, aggressive correction of hypokalemia, and avoidance of severe volume depletion may prevent the irreversible renal damage in patients with BS due to a Cl- channel defect.
Chien-Ming Lin; Jeng-Daw Tsai; Yi-Fen Lo; Ming-Tso Yan; Sung-Sen Yang; Shih-Hua Lin
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-12-03
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-07-24     Completed Date:  2010-02-01     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1129-33     Citation Subset:  IM    
Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
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MeSH Terms
Chloride Channels / genetics*
Disease Progression
Hypokalemia / genetics
Kidney Failure, Chronic / genetics*
Mutation, Missense / genetics
Point Mutation / genetics*
Sodium-Potassium-Chloride Symporters / genetics*
Reg. No./Substance:
0/CLCNKB protein, human; 0/Chloride Channels; 0/Sodium-Potassium-Chloride Symporters; 0/sodium-potassium chloride cotransporter 2 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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