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[Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case].
Pediatr Med Chir. 1996 Mar-Apr; 18(2):207-9.PM

Abstract

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.

Authors+Show Affiliations

Dipartimento di Pediatria, Università di Firenze, Italia.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
English Abstract
Journal Article

Language

ita

PubMed ID

8767587

Citation

Pela, I, et al. "[Vitamin D-dependent Type-1 Rickets: Diagnosis and Treatment of a Further Case]." La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, vol. 18, no. 2, 1996, pp. 207-9.
Pela I, Bini R, Seracini D. [Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case]. Pediatr Med Chir. 1996;18(2):207-9.
Pela, I., Bini, R., & Seracini, D. (1996). [Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case]. La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 18(2), 207-9.
Pela I, Bini R, Seracini D. [Vitamin D-dependent Type-1 Rickets: Diagnosis and Treatment of a Further Case]. Pediatr Med Chir. 1996 Mar-Apr;18(2):207-9. PubMed PMID: 8767587.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case]. AU - Pela,I, AU - Bini,R, AU - Seracini,D, PY - 1996/3/1/pubmed PY - 1996/3/1/medline PY - 1996/3/1/entrez SP - 207 EP - 9 JF - La Pediatria medica e chirurgica : Medical and surgical pediatrics JO - Pediatr Med Chir VL - 18 IS - 2 N2 - 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. SN - 0391-5387 UR - https://www.unboundmedicine.com/medline/citation/8767587/[Vitamin_D_dependent_type_1_rickets:_diagnosis_and_treatment_of_a_further_case]_ L2 - http://www.diseaseinfosearch.org/result/9453 DB - PRIME DP - Unbound Medicine ER -