title: [Congenital hyperparathyroidism. 3 cases].
abstract: Hypotonia, neonatal respiratory distress with a chest wall deformity should arouse clinical suspicion to the diagnosis of primary hyperthyroidism. The most common signs at this age are hypercalcaemia, increased alkaline phosphatase, low TRPP and radiological changes especially in the hip. Radio-immunological assay of PTH and plasma concentrations of Vitamin D metabolites are important diagnostic aids but the interpretation of these results should take the clinical and familial context into consideration. Rapid bone structural changes, the resistance of the hypercalcaemia to usual therapeutic measures and the progression to rickets justify urgent surgical treatment. Nearly all cases are due to clear cell hyperplasia.
mesh_terms: D000469:Alkaline Phosphatase / Q000097:blood; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002118:Calcium / Q000097:blood / Q000652:urine; D006801:Humans; D006961:Hyperparathyroidism / Q000151:congenital* / Q000175:diagnosis; D007231:Infant, Newborn; D010281:Parathyroid Hormone / Q000097:blood; D011859:Radiography; D011863:Radioimmunoassay; D014807:Vitamin D / Q000378:metabolism
chemical_list: D010281:Parathyroid Hormone; D014807:Vitamin D; D000469:Alkaline Phosphatase; D002118:Calcium
vernacular_title: Hyperparathyroïdie congénitale. Trois observations.