[Effects of growth hormone replacement on clinical, radiologic and laboratory parameters improvement in children with vitamin -D dependent rickets [type-2]]

ABSTRACT

Rickets, which occurs during bone growth development, is a result of severe vitamin D deficiency, that has autosolamal subtypes, i.e. A- type 1- [VDDR-I], due to a defect of the 1-alfa-hydroxilase enzyme and B] type -2[VDDR-II], due to a mutation in the intracellular vitamin -D receptor [VDR], associated with some specific symptoms like alopecia [global head hair loss] and short stature. Diagnosis was established based on physical examination, laboratory findings and radiological examination. We report here 3 cases with vitamin D-dependent rickets, type-II, all members of the same family [2 sisters, aged 1.5, 5 years and their 5 year-old cousin] who had referred to the endocrine and metabolic center in the Imam-Reza hospital in Mashhad, presenting with limb deformities, wide wrist, seizures, disorder in dental growth, alopecia, and several bone fractures. Despite various treatments, they had not recovered. However it was notable that after receiving growth hormone therapy for growth failure, rickets symptoms improved dramatically in clinical, laboratory, and radiological parameters. Using growth hormone therapy to improve height, we observed improvements in the underlying disease of siblings with VDDR-type-II. Growth hormone therapy may be advisable to treat VDDR-type II symptoms