Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption [8]

Nephrology Dialysis Transplantation

Volumn 21, Issue 11, 2006, Pages 3340-3341

  Mizumori, Yasuyuki ^a   Muto, Shigeaki ^b   Uchida, Shin Ichi ^c   Sasaki, Sei ^c   Kusano, Eiji ^b  

^a Public Muraoka Hospital Hyogo   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; COTRANSPORTER; DIURETIC AGENT; FUROSEMIDE; HYDROCHLOROTHIAZIDE; LEUCINE; PROLINE; SODIUM CHLORIDE COTRANSPORTER; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; CALCIUM URINE LEVEL; CASE REPORT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GITELMAN SYNDROME; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; KIDNEY TUBULE ABSORPTION; LETTER; METABOLIC ALKALOSIS; MISSENSE MUTATION; PRIORITY JOURNAL; SODIUM ABSORPTION;

AMINO ACID SUBSTITUTION; CALCIUM; FEMALE; GITELMAN SYNDROME; HUMANS; KIDNEY TUBULES, PROXIMAL; MIDDLE AGED; RECEPTORS, DRUG; SODIUM CHLORIDE; SODIUM CHLORIDE SYMPORTERS;

EID: 33750018924     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl361     Document Type: Letter

References (9)

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