Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rickets develops when growing bones fail to mineralize. In most cases, the diagnosis is established with a thorough history and physical examination and confirmed by laboratory evaluation. Nutritional rickets can be caused by inadequate intake of nutrients (vitamin D in particular); however, it is not uncommon in dark-skinned children who have limited sun exposure and in infants who are breastfed exclusively. Vitamin D-dependent rickets, type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase, and type II results from defective vitamin D receptors. The vitamin D-resistant types are familial hypophosphatemic rickets and hereditary hypophosphatemic rickets with hypercalciuria. Other causes of rickets include renal disease, medications, and malabsorption syndromes. Nutritional rickets is treated by replacing the deficient nutrient. Mothers who breastfeed exclusively need to be informed of the recommendation to give their infants vitamin D supplements beginning in the first two months of life to prevent nutritional rickets. Vitamin D-dependent rickets, type I is treated with vitamin D; management of type II is more challenging. Familial hypophosphatemic rickets is treated with phosphorus and vitamin D, whereas hereditary hypophosphatemic rickets with hypercalciuria is treated with phosphorus alone. Families with inherited rickets may seek genetic counseling. The aim of early diagnosis and treatment is to resolve biochemical derangements and prevent complications such as severe deformities that may require surgical intervention.
 ...
PMID:Rickets: not a disease of the past. 1732 6

A case of pseudovitamin D deficiency (Vitamin D dependent rickets type I) is presented, who initially responded to physiological doses of calcitriol but developed nephrolithiasis and hypercalciuria around puberty. Hypercalciuria was corrected after stopping calcitriol. Pseudo vitamin D deficiency rickets also called vitamin D dependent rickets type I (VDDR 1) is an uncommon cause of rickets. Patients appear normal at birth and manifests with signs between the ages of two months to two years. Muscle weakness is prominent, radiographic features are striking and response to calciferols is complete. Hypercalciuria and nephrolithiasis are uncommon in the untreated disease but can develop due to overtreatment with calcitriol or oral calcium. Here we report a patient who developed hypercalciuria and nephrolithiasis around puberty while on maintenance dose of calcitriol and oral calcium.
 ...
PMID:Hypercalciuria and nephrolithiasis on long-term follow-up of pseudo-vitamin D deficiency rickets. 2057 17