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[Vitamin D-dependent type-1 rickets: diagnosis and treatment of a further case]
1Dipartimento di Pediatria, Università di Firenze, Italia.
Insights
A child with vitamin D dependent rickets type 1 experienced hypocalcemia and seizures. Treatment with calcitriol (1 alpha, 25 (OH)2D3) normalized calcium levels and improved symptoms.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Vitamin D dependent rickets type 1 (VDDR1) is a rare genetic disorder.
- It results from a mutation in the CYP27B1 gene, leading to impaired synthesis of the active vitamin D metabolite, calcitriol (1 alpha, 25 (OH)2D3).
- Early diagnosis and treatment are crucial to prevent severe complications.
Observation:
- A three-month-old infant presented with hypocalcemia, seizures, and EEG abnormalities, indicative of VDDR1.
- Laboratory tests revealed low circulating 1 alpha, 25 (OH)2D3 levels despite normal 25 (OH)D3 and adequate vitamin D intake.
- Clinical manifestations included rickets, hypocalcemia, and neurological symptoms.
Findings:
- The patient showed a positive response to calcium gluconate infusions and pharmacologic doses of calcitriol (1 alpha, 25 (OH)2D3).
- Biochemical parameters, including serum calcium and phosphate, normalized with treatment.
- Radiological evidence of rickets also resolved, and the patient achieved optimal metabolic control.
Implications:
- This case highlights the importance of recognizing VDDR1 in infants presenting with hypocalcemia and seizures.
- Prompt administration of calcitriol is essential for managing VDDR1 and preventing long-term complications.
- Long-term, low-dose calcitriol maintenance therapy can ensure normal growth and development in affected individuals.
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.