Erratum: Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation (Clinical Kidney Journal (2013) 6 (211-215) DOI: 10.1093/ckj/sft008);Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

Clinical Kidney Journal

Volumn 6, Issue 2, 2013, Pages 211-215

  Meusburger, Edgar ^a   Mündlein, Axel ^a   Zitt, Emanuel ^a   Obermayer Pietsch, Barbara ^b   Kotzot, Dieter ^c   Lhotta, Karl ^a  

^a Academic Teaching Hospital Feldkirch   (Austria)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

fibroblast growth factor 23; hypercalcaemia; nephrocalcinosis

Indexed keywords

CALCIUM; CANDESARTAN; COLECALCIFEROL; CREATININE; CYTOCHROME P450; CYTOCHROME P450 24A1; FIBROBLAST GROWTH FACTOR 23; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; BORDERLINE HYPERTENSION; CALCIUM BLOOD LEVEL; CHILDHOOD; CHRONIC KIDNEY DISEASE; CREATININE BLOOD LEVEL; CYP24A1 GENE; ECHOGRAPHY; FEMALE; GENE; GLOMERULUS FILTRATION RATE; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; IDIOPATHIC INFANTILE HYPERCALCEMIA; KIDNEY CALCIFICATION; MAJOR CLINICAL STUDY; MALE; MICROALBUMINURIA; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SEQUENCE ANALYSIS; URINALYSIS; VITAMIN SUPPLEMENTATION;

EID: 84875738866     PISSN: 20488505     EISSN: 20488513     Source Type: Journal    
DOI: 10.1093/ckj/sft091     Document Type: Erratum

References (26)

1. Jones G, Prosser DE, Kaufmann M. 25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D. Arch Biochem Biophys 2012; 523: 9-18.
2. Wang TJ, Zhang F, Richards JB et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 2010; 376: 180-188.
3. Ahn J, Yu K, Stolzenberg-Solomon R et al. Genome-wide association study of circulating vitamin D levels. Hum Mol Genet 2010; 19: 2739-2745.
4. St-Arnaud R. Targeted inactivation of vitamin D hydroxylases in mice. Bone 1999; 25: 127-129.
5. Masuda S, Byford V, Arabian A et al. Altered pharmacoki-netics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvi-tamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse. Endocrinology 2005; 146: 825-834.
6. Schlingmann KP, Kaufmann M, Weber S et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 2011; 365: 410-421.
7. Isakova T, Wahl P, Vargas GS et al. Fibroblast growth factor 23 is elevated before parathyroid hormone and phosphate in chronic kidney disease. Kidney Int 2011; 79: 1370-1378.
8. Streeten EA, Zarbalian K, Damcott CM. CYP24A1 mutations in idiopathic infantile hypercalcemia. N Engl J Med 2011; 365: 1741-1742; author reply 1742-1743.
9. 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: E268-E274.
10. Tebben PJ, Milliner DS, Horst RL et al. Hypercalcemia, hyper-calciuria, and elevated calcitriol concentrations with autoso-mal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab 2012; 97: E423-E427.
11. Fencl F, Blahova K, Schlingmann KP et al. Severe hypercalce-mic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. Eur J Pediatr 2013; 172: 45-49.
12. Lightwood R. Idiopathic hypercalcaemia with failure to thrive: nephrocalcinosis. Proc R Soc Med 1952; 45: 401
13. Lightwood R, Stapleton T. Idiopathic hypercalcaemia in infants. Lancet 1953; 265: 255-256.
14. Rhaney K, Mitchell RG. Idiopathic hypercalcaemia of infants. Lancet 1956; 270: 1028-1032.
15. Association BP. Hypercalcaemia in infants and vitamin D. BMJ 1956; 2: 149.
16. Huang J, Coman D, McTaggart SJ et al. Long-term follow-up of patients with idiopathic infantile hypercalcaemia. Pediatr Nephrol 2006; 21: 1676-1680.
17. Annalora AJ, Goodin DB, Hong WX et al. Crystal structure of CYP24A1, a mitochondrial cytochrome P450 involved in vitamin D metabolism. J Mol Biol 2010; 396: 441-451.
18. Nguyen M, Boutignon H, Mallet E et al. Infantile hypercalce-mia and hypercalciuria: new insights into a vitamin D-depen-dent mechanism and response to ketoconazole treatment. J Pediatr 2010; 157: 296-302.
19. Perwad F, Zhang MY, Tenenhouse HS et al. Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxyl-ase expression in vitro. Am J Physiol Renal Physiol 2007; 293: F1577-F1583.
20. Brenza HL, DeLuca HF. Regulation of 25-hydroxyvitamin D3 1alpha-hydroxylase gene expression by parathyroid hormone and 1,25-dihydroxyvitamin D3. Arch Biochem Biophys 2000; 381: 143-152.
21. Shimada T, Yamazaki Y, Takahashi M et al. Vitamin D receptor-independent FGF23 actions in regulating phosphate and vitamin D metabolism. Am J Physiol Renal Physiol 2005; 289: F1088-F1095.
22. Zierold C, Mings JA, DeLuca HF. Parathyroid hormone regulates 25-hydroxyvitamin D(3)-24-hydroxylase mRNA by altering its stability. Proc Natl Acad Sci USA 2001; 98: 13572-13576.
23. Mizusawa Y, Burke JR. Prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with ne-phrocalcinosis. J Paediatr Child Health 1996; 32: 350-352.
24. Alon U, Berkowitz D, Berant M. Idiopathic infantile hypercal-cemia: rapid response to treatment with calcitonin. Child Nephrol Urol 1992; 12: 47-50
25. Bereket A, Erdogan T. Oral bisphosphonate therapy for vitamin D intoxication of the infant. Pediatrics 2003; 111: 899-901.
26. Glass AR, Eil C. Ketoconazole-induced reduction in serum 1,25-dihydroxyvitamin D and total serum calcium in hyper-calcemic patients. J Clin Endocrinol Metab 1988; 66: 934-938.