Juvenile onset IIH and CYP24A1 mutations

Bone Reports - Tập 9 - Trang 42-46 - 2018
Karl P. Schlingmann1, Walburga Cassar2, Martin Konrad1
1Department of General Pediatrics, University Children's Hospital, Münster, Germany
2Department of Pediatrics, Bruneck Hospital, Bruneck, Italy

Tài liệu tham khảo

Castanet, 2013, Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations, J. Pediatr., 163, 1208, 10.1016/j.jpeds.2013.04.056 Colussi, 2014, Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure, Nephrol. Dial. Transplant., 29, 636, 10.1093/ndt/gft460 Cools, 2015, Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: a cross-sectional study, Bone, 81, 89, 10.1016/j.bone.2015.06.018 Dasgupta, 2014, Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis, J. Am. Soc. Nephrol., 25, 2366, 10.1681/ASN.2013101085 Dauber, 2012, Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia, J. Clin. Endocrinol. Metab., 97, E268, 10.1210/jc.2011-1972 Davies, 2012, Investigation and management of hypercalcaemia in children, Arch. Dis. Child., 97, 533, 10.1136/archdischild-2011-301284 Dinour, 2013, Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis, J. Urol., 190, 552, 10.1016/j.juro.2013.02.3188 Dinour, 2015, Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake, Pediatr. Nephrol., 30, 145, 10.1007/s00467-014-2889-1 Dinour, 2016, Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency, Pediatr. Nephrol., 31, 2289, 10.1007/s00467-016-3443-0 Fanconi, 1951, Chronic disorders of calcium and phosphate metabolism in children, Schweiz. Med. Wochenschr., 81, 908 Fencl, 2013, Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene, Eur. J. Pediatr., 172, 45, 10.1007/s00431-012-1818-1 Figueres, 2015, Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations, Am. J. Kidney Dis., 65, 122, 10.1053/j.ajkd.2014.06.037 Hawkes, 2017, CYP3A4 induction by rifampin: an alternative pathway for vitamin D inactivation in patients with CYP24A1 mutations, J. Clin. Endocrinol. Metab., 102, 1440, 10.1210/jc.2016-4048 Huang, 2006, Long-term follow-up of patients with idiopathic infantile hypercalcaemia, Pediatr. Nephrol., 21, 1676, 10.1007/s00467-006-0217-0 Jacobs, 2014, A lifetime of hypercalcemia and hypercalciuria, finally explained, J. Clin. Endocrinol. Metab., 99, 708, 10.1210/jc.2013-3802 Jobst-Schwan, 2015, Discordant clinical course of vitamin-D-hydroxylase (CYP24A1) associated hypercalcemia in two adult brothers with nephrocalcinosis, Kidney Blood Press. Res., 40, 443, 10.1159/000368520 Jones, 2012, 25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D, Arch. Biochem. Biophys., 523, 9, 10.1016/j.abb.2011.11.003 Kaufmann, 2014, Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD, J. Clin. Endocrinol. Metab., 99, 2567, 10.1210/jc.2013-4388 Kaufmann, 2017, Improved screening test for idiopathic infantile hypercalcemia confirms residual levels of serum 24,25-(OH)2 D3 in affected patients, J. Bone Miner. Res., 32, 1589, 10.1002/jbmr.3135 Kwong, 2016, Hypercalcemic pancreatitis triggered by pregnancy with a CYP24A1 mutation, Pancreas, 45, e31, 10.1097/MPA.0000000000000577 Lightwood, 1953, Idiopathic hypercalcaemia in infants, Lancet, 265, 255, 10.1016/S0140-6736(53)90187-1 Makin, 1989, Target cell metabolism of 1,25-dihydroxyvitamin D3 to calcitroic acid. Evidence for a pathway in kidney and bone involving 24-oxidation, Biochem. J., 262, 173, 10.1042/bj2620173 McTaggart, 1999, Familial occurrence of idiopathic infantile hypercalcemia, Pediatr. Nephrol., 13, 668, 10.1007/s004670050678 Meusburger, 2013, Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation, Clin. Kidney J., 6, 211, 10.1093/ckj/sft008 Mizusawa, 1996, Prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with nephrocalcinosis, J. Paediatr. Child Health, 32, 350, 10.1111/j.1440-1754.1996.tb02569.x Molin, 2015, CYP24A1 mutations in a cohort of hypercalcemic patients: evidence for a recessive trait, J. Clin. Endocrinol. Metab., 100, E1343, 10.1210/jc.2014-4387 Morgan, 1956, Metabolic studies on two infants with idiopathic hypercalcaemia, Lancet, 270, 925, 10.1016/S0140-6736(56)91518-5 Nesterova, 2013, 1,25-(OH)2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis, Clin. J. Am. Soc. Nephrol., 8, 649, 10.2215/CJN.05360512 Nguyen, 2010, Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment, J. Pediatr., 157, 296, 10.1016/j.jpeds.2010.02.025 Norman, 2009, Hyperparathyroidism during pregnancy and the effect of rising calcium on pregnancy loss: a call for earlier intervention, Clin. Endocrinol., 71, 104, 10.1111/j.1365-2265.2008.03495.x Perez Jurado, 1996, Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth, Am. J. Hum. Genet., 59, 781 Pronicka, 2017, Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases, J. Appl. Genet., 58, 349, 10.1007/s13353-017-0397-2 Rey, 2016, Hypercalcemia in pregnancy - a multifaceted challenge: case reports and literature review, Clin. Case Rep., 4, 1001, 10.1002/ccr3.646 Rodd, 1999, Hypercalcemia of the newborn: etiology, evaluation, and management, Pediatr. Nephrol., 13, 542, 10.1007/s004670050654 Roizen, 2018, CYP3A4 mutation causes vitamin D-dependent rickets type 3, J. Clin. Invest., 128, 1913, 10.1172/JCI98680 Sargent, 1993, Normal values for random urinary calcium to creatinine ratios in infancy, J. Pediatr., 123, 393, 10.1016/S0022-3476(05)81738-X Sayer, 2015, Re: loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis, Eur. Urol., 68, 164, 10.1016/j.eururo.2015.03.056 Sayers, 2015, Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole, Clin. Kidney J., 8, 453, 10.1093/ckj/sfv028 Schlingmann, 2011, Mutations in CYP24A1 and idiopathic infantile hypercalcemia, N. Engl. J. Med., 365, 410, 10.1056/NEJMoa1103864 Schlingmann, 2016, Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia, J. Am. Soc. Nephrol., 27, 604, 10.1681/ASN.2014101025 Shah, 2015, Maternal hypercalcemia due to failure of 1,25-Dihydroxyvitamin-D3 catabolism in a patient with CYP24A1 mutations, J. Clin. Endocrinol. Metab., 100, 2832, 10.1210/jc.2015-1973 Skalova, 2013, Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia, Iran. J. Kidney Dis., 7, 160 Tebben, 2012, Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy, J. Clin. Endocrinol. Metab., 97, E423, 10.1210/jc.2011-1935 Wolf, 2014, A case of "late-onset" idiopathic infantile hypercalcemia secondary to mutations in the CYP24A1 gene, Endocr. Pract., 20, e91, 10.4158/EP13479.CR Woods, 2016, A young woman with recurrent gestational hypercalcemia and acute pancreatitis due to CYP24A1 deficiency, J. Bone Miner. Res., 31, 1841, 10.1002/jbmr.2859