Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation
نویسندگان
چکیده
[This corrects the article on p. 211 in vol. 6, PMID: 24175086.].
منابع مشابه
CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia (IIH) was associated with vitamin-D supplementation in the 1950's. Fifty years later, mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. We report a case of a 21-month old girl, initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed...
متن کاملUrine with stones: nephrocalcinosis and vitamin D
Background Nephrocalcinosis (NC) refers to diffuse, fine, renal parenchymal calcification, as assessed by radiology or ultrasonography. In medullary NC, the calcification tends to occur in the area of the renal pyramids. It is typically associated with elevated urinary calcium, phosphate, and oxalate, or it can occur with alkaline urine. Any disorder that can lead to hypercalcemia or hypercalci...
متن کاملSuccessful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole
Mutations in CYP24A1, encoding the vitamin D 24-hydroxlase enzyme, are known to cause a range of clinical phenotypes and presentations including idiopathic infantile hypercalcaemia and adult-onset nephrocalcinosis and nephrolithiasis. In the context of raised or borderline high serum calcium levels, suppressed PTH and persistently elevated 1,25 dihydroxy vitamin D levels, this rare condition sh...
متن کاملDiscordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
BACKGROUND/AIMS Hypercalcemia can result in nephrocalcinosis/nephrolithiasis and may lead to renal failure. Idiopathic infantile hypercalcemia is caused by mutations of the CYP24A1 gene, which regulates vitamin D activity. Classically infants present with hypercalcemia. Recently, a number of individuals have been reported with late onset clinical manifestation or late diagnosis in adulthood. Al...
متن کاملIncreased rates of infantile hypercalcaemia following guidelines for antenatal vitamin D3 supplementation
Consultations for infantile hypercalcaemia (IIH) have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of lowcalcium formula (LCF) suggest this problem may be widespread. CYP24A1 mutations have been identified as a potential cause of IIH. To determine if IIH is occurring more commonly, d...
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عنوان ژورنال:
دوره 6 شماره
صفحات -
تاریخ انتشار 2013