A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

European Journal of Pediatrics

Volumn 171, Issue 2, 2012, Pages 401-404

  Okamoto, Takayuki ^a   Tajima, Toshihiro ^a   Hirayama, Tomoya ^b   Sasaki, Satoshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Kitasaito Hospital   (Japan)

Author keywords

Bartter syndrome; Chronic renal failure; CLCN5 gene; Dent disease; Growth hormone deficiency

Indexed keywords

ALDOSTERONE; BETA 2 MICROGLOBULIN; CHLORIDE CHANNEL; INDOMETACIN; LISINOPRIL; MEFENAMIC ACID; POTASSIUM; PROTEIN CLCN5; RECOMBINANT GROWTH HORMONE; SPIRONOLACTONE; UNCLASSIFIED DRUG;

ALDOSTERONE BLOOD LEVEL; ARTICLE; BARTTER SYNDROME; BETA 2 MICROGLOBULIN URINE LEVEL; CASE REPORT; CHILD; CREATININE CLEARANCE; DENT DISEASE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; HYPERCALCIURIA; HYPOKALEMIA; KIDNEY BIOPSY; MALE; NONSENSE MUTATION; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RENAL PROTECTION; URINALYSIS;

ABNORMALITIES, MULTIPLE; BARTTER SYNDROME; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CODON, NONSENSE; DENT DISEASE; HUMANS; MALE;

EID: 84856831482     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1578-3     Document Type: Article

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