Rickets is a disease in on growing bones due to precipitate disorders of calcium (Ca) and phosphor (P) in matrix of growth plate before epiphysial closing. Different types for rashitism including nutritional, hypophosphatemic and vitamin-D dependent rickets) VDDR). VDDR is a result of severe vitamin D deficiency that had tow subtype:
A) type -1(VDDR-1) because of defect of 1-alfa-hydroxilase enzyme.
B) type -2(VDDR-2) because of mutation in intracellular vitamin-D receptor (VDR) associated with some especial symptoms like alopesia (global head hair loss) and short stature. this disease needs to high dose of vitamin-D analogues also calcium complement. although response to treatment is variable.
Cases Introduction We introduce 3 cases of VDDR-2 in a family (2 sisters aged 1.5, 5 years and their 5 years old cousin) who referred to endocrine and metabolic centre in Emam–Reza hospital in Mashhad presenting limb deformities, wide wrist, seizure, disorder in dental growth, alopesia, several bone fractures. they had not been recovered despite receiving sufficient treatment. it was notable when they received growth hormone therapy because of growth failure, their rickets improved dramatically by clinical, laboratory, radiological.
Discussion According to discover several clinical indication for growth hormone therapy during last 50 years, still there are not enough studies about growth hormone therapy in VDDR. As second type of vitamin-D dependent rickets sometimes needs to long time calcium infusion or high dosage of active vitamin-D analogues, so it seems that growth hormone therapy in these patients especially with short stature may improve linear growth and rickets symptoms too.
- vitamin –D dependent rickets
- growth hormone