Neonatal hypercalcemia.
The causes of hypercalcemia during the neonatal period are varied. Diagnosis is based on the plasma levels of parathyroid hormone (PTH). (a) PTH in plasma is diminished; exogenous o r endogenous calcium overloading is suspected. (b) PTH in plasma is increased; hyperparathyroidism caused by homozygous or heterozygousloss-of-function mutations in the CaR gene is suspected. (c) PTH i n plasma is normal; low or normal urinary calcium excretion (i.e.relative hypocalciuria) and normal PTH plasma levelsare relevant findings of familial hypocalciuric hypercalcemia (FHH) syndrome.
Rodríguez Soriano
Juan
J
University of the País Vasco, Department of Pediatrics, Hospital de Cruces, Bilbao, Vizcaya, Spain. jsoriano@hcru.osakidetza.es
D002135:Calcium-Binding Proteins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006934:Hypercalcemia / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006961:Hyperparathyroidism / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood / Q000378:metabolism*; D011379:Prognosis; D018570:Risk Assessment; D013030:Spain / Q000453:epidemiology
D002135:Calcium-Binding Proteins; D010281:Parathyroid Hormone