Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND [13]

Nephrology Dialysis Transplantation

Volumn 22, Issue 1, 2007, Pages 288-289

  Brum, Sandra ^a   Rueff, José ^b   Santos Joao R , J R ^a   Calado, Joaquim ^a,b  

^a HOSPITAL CURRY CABRAL   (Portugal)

^b UNIVERSIDADE NOVA DE LISBOA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CREATININE; POTASSIUM; POTASSIUM CHLORIDE; RENIN; SPIRONOLACTONE;

ADULT; ALDOSTERONE BLOOD LEVEL; BARTTER SYNDROME; CASE REPORT; CONSANGUINEOUS MARRIAGE; FEMALE; GENE MUTATION; GLOMERULUS FILTRATION RATE; HOMOZYGOSITY; HUMAN; HYDRAMNIOS; HYPOCALCEMIA; LETTER; METABOLIC ALKALOSIS; PERCEPTION DEAFNESS; PHENOTYPE; PLASMA RENIN ACTIVITY; POLYDIPSIA; POLYURIA; PREMATURE LABOR; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; ALLELES; BARTTER SYNDROME; DEAFNESS; FEMALE; GLOMERULAR FILTRATION RATE; HOMOZYGOTE; HUMANS; HYPOKALEMIA; KIDNEY; MEMBRANE PROTEINS; MUTATION; PHENOTYPE;

EID: 33846108259     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl493     Document Type: Letter

References (6)

1. Birkenhager R, Otto E, Schurmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001; 29: 310-314
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3. Jeck N, Reinalter SC, Henne T et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001; 108: E5
4. Shalev H, Ohali M, Kachko L, Landau D. The neonatal variant of Bartter syndrome and deafness: Preservation of renal function. Pediatrics 2003; 112: 628-633
5. Miyamura N, Matsumoto K, Taguchi T et al. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab 2003; 88: 781-786
6. García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. Pediatr Nephrol 2006; 21: 643-648