Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure | Zendy

Giacomo Colussi | Zendy; Liat Ga | Zendy; Silvana Penco | Zendy; M. E. De Ferrari | Zendy; Federica Ravera | Zendy; Marialuisa Querques | Zendy; Paola Primignani | Zendy; Eliezer J. Holtzman | Zendy; Dganit Dinour | Zendy

Open Access

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Author(s) -

Giacomo Colussi,

Liat Ga,

Silvana Penco,

M. E. De Ferrari,

Federica Ravera,

Marialuisa Querques,

Paola Primignani,

Eliezer J. Holtzman,

Dganit Dinour

Publication year - 2013

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gft460

Subject(s) - medicine , endocrinology , hypercalcaemia , cyp24a1 , hypercalciuria , vitamin d and neurology , nephrocalcinosis , renal function , parathyroid hormone , kidney disease , vitamin d deficiency , calcitriol , vitamin , calcium , kidney , calcitriol receptor

Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still to be defined.

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