[Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case].
We describe a child with vitamin D dependent rickets type 1, who developed clinical signs of the disease at three months of age. The principal manifestations were hypocalcemia and seizure with EEG abnormalities. The circulating level of 1 alpha, 25 (OH)2D3 was low despite a normal level of 25 (OH)D3 and an adequate vitamin D supplementation. The patient responded to calcium gluconate infusions and pharmacologic doses of 1 alpha, 25 (OH)2D3 and a normalization of calcemia was obtained. After six months the therapy was progressively reduced to physiological dosage with optimal metabolic control. The patient is now 2.5 years old and receive a maintenance dose of calcitriol of 0.125 mcg/day. His clinical, biochemical and radiologic features are normal.
Pela
I
I
Dipartimento di Pediatria, Università di Firenze, Italia.
Bini
R
R
Seracini
D
D
D002117:Calcitriol / Q000008:administration & dosage* / Q000097:blood*; D002118:Calcium / Q000097:blood; D002125:Calcium Gluconate / Q000008:administration & dosage; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D008297:Male; D012279:Rickets / Q000175:diagnosis / Q000188:drug therapy / Q000378:metabolism*; D013997:Time Factors; D014807:Vitamin D / Q000008:administration & dosage*
D014807:Vitamin D; D002117:Calcitriol; D002125:Calcium Gluconate; D002118:Calcium
Rachitismo vitamina D dipendente tipo 1. Diagnosi e trattamento di un nuovo caso.