Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations

World Journal of Pediatrics

Volumn 8, Issue 2, 2012, Pages 177-180

  Seeley, Hilary H ^b   Loomba Albrecht, Lindsey A ^c   Nagel, Mato ^d   Butani, Lavjay ^c   Bremer, Andrew A ^a  

^a VANDERBILT UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Center for Nephrology and Metabolic Disorders   (Germany)

Author keywords

Claudin 16; Hypercalciuria; Hypomagnesemia; Nephrocalcinosis; Paracellin 1

Indexed keywords

AMILORIDE; CALCIUM; CITRATE POTASSIUM; HYDROCHLOROTHIAZIDE; MAGNESIUM; MAGNESIUM OXIDE;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLDN16 GENE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; KIDNEY FUNCTION; LABORATORY TEST; MALE; NEPHROSTOMY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SCHOOL CHILD; SIBLING; ULTRASOUND; URINALYSIS; URINARY TRACT INFECTION; GENETICS; KIDNEY TUBULE DISORDER;

CHILD; FEMALE; HUMANS; HYPERCALCIURIA; MALE; NEPHROCALCINOSIS; RENAL TUBULAR TRANSPORT, INBORN ERRORS;

EID: 84866249251     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-011-0295-3     Document Type: Article

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