title: Self-limited neonatal familial hyperparathyroidism associated with hypercalciuria and renal tubular acidosis in three siblings.
abstract: Three siblings with neonatal familial hyperparathyroidism diagnosed at age 4 months, 2 months, and 5 days, respectively, were treated. Hypercalciuria, nephrocalcinosis, and renal tubular acidosis were present in each child. In all three, there were higher responses of serum parathyroid hormone to serum calcium and higher elevation of serum calcium with oral calcium loading. The metabolism of vitamin D and calcitonin seemed to be intact. Hypercalcemia associated with the abnormal response of parathyroid hormone secretion disappeared when the children passed the age of approximately 2 years, although renal tubular acidosis and nephrocalcinosis remained. An autosomal recessive inheritance seems likely.
authors.affiliation: Department of Pediatrics, Kumamoto University Medical School, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Nishiyama
authors.forename: S
authors.initials: S
authors.lastname: Tomoeda
authors.forename: F
authors.initials: F
authors.lastname: Inoue
authors.forename: T
authors.initials: T
authors.lastname: Ohta
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D001639:Bicarbonates / Q000008:administration & dosage; D002114:Calcinosis / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D002118:Calcium / Q000097:blood / Q000652:urine*; D002136:Calcium, Dietary / Q000008:administration & dosage; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood; D012964:Sodium / Q000008:administration & dosage; D017693:Sodium Bicarbonate; D014807:Vitamin D / Q000008:administration & dosage
chemical_list: D001639:Bicarbonates; D002136:Calcium, Dietary; D010281:Parathyroid Hormone; D014807:Vitamin D; D017693:Sodium Bicarbonate; D012964:Sodium; D002118:Calcium