Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to cyp24a1 mutations

American Journal of Kidney Diseases

Volumn 65, Issue 1, 2015, Pages 122-126

  Figueres, Marie Lucile ^a   Linglart, Agnès ^b,c,d   Bienaime, Frank ^e   Allain Launay, Emma ^a   Roussey Kessler, Gwenaelle ^a,c   Ryckewaert, Amélie ^f   Kottler, Marie Laure ^g   Hourmant, Maryvonne ^a  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c INSERM   (France)

^d Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphore   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g CAEN UNIVERSITY HOSPITAL   (France)

Author keywords

1,25 dihydroxyvitaminD(1,25 OH 2D); 24 hydroxylase; Chronic kidney disease (CKD); CYP24A1; Hypercalcemia; Hypercalciuria; Hypervitaminosis D; Idiopathic infantile hypercalcemia (IIH); Nephrocalcinosis; Parathyroid hormone (PTH); VitaminDmetabolism

Indexed keywords

BICARBONATE; BISPHOSPHONIC ACID DERIVATIVE; CALCITRIOL; CALCIUM; COLECALCIFEROL; COLECALCIFEROL 24 HYDROXYLASE; ERGOCALCIFEROL; GLUCOCORTICOID; HYDROCHLOROTHIAZIDE; KETOCONAZOLE; PARATHYROID HORMONE; 1,25-DIHYDROXYVITAMIN D; BONE DENSITY CONSERVATION AGENT; CYP24A1 PROTEIN, HUMAN; VITAMIN D;

ACUTE KIDNEY FAILURE; ACUTE PANCREATITIS; ADULT; ALCOHOLISM; ARTICLE; ASYMPTOMATIC DISEASE; CALCIUM ABSORPTION; CALCIUM BLOOD LEVEL; CALCIUM INTAKE; CALCIUM URINE LEVEL; CATABOLISM; CHILD; CHONDROCALCINOSIS; CLINICAL ARTICLE; COHORT ANALYSIS; CORTICOSTEROID THERAPY; DRUG TREATMENT FAILURE; EARLY MENOPAUSE; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GLOMERULUS FILTRATION RATE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYDROXYLATION; HYPERCALCEMIA; HYPERCALCIURIA; IDIOPATHIC DISEASE; INFANCY; KIDNEY CALCIFICATION; KIDNEY FUNCTION; KIDNEY TUBULE; KIDNEY TUBULE ACIDOSIS; LONGITUDINAL STUDY; MALE; MIDDLE AGED; NEPHROLITHIASIS; OSTEOPOROSIS; PRESCHOOL CHILD; PROPHYLAXIS; REHYDRATION; SCHOOL CHILD; SEASONAL VARIATION; SUMMER; SUN EXPOSURE; SUNLIGHT; VITAMIN SUPPLEMENTATION; ANALOGS AND DERIVATIVES; BLOOD; CASE REPORT; FLUID THERAPY; GENETICS; INFANT; KIDNEY FUNCTION TEST; METABOLISM; MUTATION; NEPHROCALCINOSIS; PATHOPHYSIOLOGY; PHYSIOLOGIC MONITORING; PROCEDURES; RENAL INSUFFICIENCY, CHRONIC; SEASON; TREATMENT OUTCOME;

BONE DENSITY CONSERVATION AGENTS; CALCIUM; CHILD; CHILD, PRESCHOOL; DIPHOSPHONATES; FEMALE; FLUID THERAPY; HUMANS; HYPERCALCEMIA; HYPERCALCIURIA; INFANT; KIDNEY FUNCTION TESTS; MALE; MIDDLE AGED; MONITORING, PHYSIOLOGIC; MUTATION; NEPHROCALCINOSIS; NEPHROLITHIASIS; PARATHYROID HORMONE; RENAL INSUFFICIENCY, CHRONIC; SEASONS; SUNLIGHT; TREATMENT OUTCOME; VITAMIN D; VITAMIN D3 24-HYDROXYLASE;

EID: 84922417220     PISSN: 02726386     EISSN: 15236838     Source Type: Journal    
DOI: 10.1053/j.ajkd.2014.06.037     Document Type: Article

References (8)

1. Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011; 365 (5): 410-421
2. Dauber A, Nguyen TT, Sochett E, et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012; 97 (2): E268-E274
3. Nesterova G, Malicdan MC, Yasuda K, et al. 1,25- (OH)2D-24 Hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis. Clin J Am Soc Nephrol. 2013; 8 (4): 649-657
4. Streeten EA, Zarbalian K, Damcott CM. CYP24A1 mutations in idiopathic infantile hypercalcemia [letter]. N Engl J Med. 2011; 365 (18): 1741-1742; author reply 1742-1743
5. Fencl F, Blahova K, Schlingmann KP, Konrad M, Seeman T. Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. Eur J Pediatr. 2013; 172 (1): 45-49
6. Tebben PJ, Milliner DS, Horst RL, et al. Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: Effects of ketoconazole therapy. J Clin Endocrinol Metab. 2012; 97 (3): E423-E427
7. Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ. Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause longstanding hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol. 2013; 190 (2): 552-557
8. Castanet M, Mallet E, Kottler ML. Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations. J Pediatr. 2013; 4: 1208-1210.