Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis

Journal of Urology

Volumn 190, Issue 2, 2013, Pages 552-557

  Dinour, Dganit ^a   Beckerman, Pazit ^a   Ganon, Liat ^a   Tordjman, Karen ^b   Eisenstein, Zemach ^a   Holtzman, Eli J ^a  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

hypercalcemia, infantile; hypercalciuria; nephrocalcinosis; nephrolithiasis; vitamin D 24 hydroxylase

Indexed keywords

CALCIFEDIOL; CALCITRIOL; CALCITRIOL 24 HYDROXYLASE; CALCIUM; CREATININE; GENOMIC DNA; KETOCONAZOLE; OXYGENASE; PARATHYROID HORMONE; SECALCIFEROL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CALCIUM BLOOD LEVEL; CALCIUM OXALATE STONE; CASE REPORT; CHRONIC KIDNEY DISEASE; CHRONIC KIDNEY FAILURE; CLINICAL EVALUATION; CONSANGUINITY; CREATININE BLOOD LEVEL; DISEASE SEVERITY; DNA ISOLATION; EXTRACORPOREAL LITHOTRIPSY; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDRONEPHROSIS; HYDROURETER; HYPERCALCEMIA; HYPERCALCIURIA; ISRAEL; KIDNEY CALCIFICATION; KIDNEY COLIC; LOSS OF FUNCTION MUTATION; MALE; NEPHROLITHIASIS; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; ULTRASOUND; URETEROSCOPY; VITAMIN BLOOD LEVEL;

COMPUTERIZED TOMOGRAPHY; CT; ESWL®; EXTRACORPOREAL SHOCK WAVE LITHOTRIPSY; HYPERCALCEMIA, INFANTILE; HYPERCALCIURIA; INTACT PARATHYROID HORMONE; IPTH; NEPHROCALCINOSIS; NEPHROLITHIASIS; PARATHYROID HORMONE; PTH; VITAMIN D 24-HYDROXYLASE;

ADULT; CONSANGUINITY; HUMANS; HYPERCALCIURIA; ISRAEL; MALE; MIDDLE AGED; MUTATION; NEPHROCALCINOSIS; NEPHROLITHIASIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; STEROID HYDROXYLASES;

EID: 84880045700     PISSN: 00225347     EISSN: 15273792     Source Type: Journal    
DOI: 10.1016/j.juro.2013.02.3188     Document Type: Article

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