Vitamin-Resistant Rickets Type 2 Hereditary Disorder: About a New Case
G. Arsalane *
Pediatrics Department, Benslimane Provincial Hospital, PIV Department Rabat Children's Hospital, Morocco.
N. Oulahyane
Pediatrics Department, Benslimane Provincial Hospital, PIV Department Rabat Children's Hospital, Morocco.
H. Ait Omar
Pediatrics Department, Benslimane Provincial Hospital, PIV Department Rabat Children's Hospital, Morocco.
B. Chkirate
Pediatrics Department, Benslimane Provincial Hospital, PIV Department Rabat Children's Hospital, Morocco.
*Author to whom correspondence should be addressed.
Abstract
The Aim: The aim of the study is to resume the difficulties to diagnosis and to manage a rare type of rickets the vitamin-resistant type II.
Introduction: Rickets is a disease of the skeleton of growing children due to a defect in bone mineralization.
Much rarer is vitamin-resistant rickets secondary to genetic or acquired abnormalities of phosphocalcic metabolism. Pseudo-deficiency rickets type ll is a vitamin-resistant rickets due to an abnormality of the vitamin D receptor.
Report Case: This a 3 years old boy of consanguineous parents, with totally alopecia who presented an inability to walk and stand. The paraclinical signs (radiological and biological ) also the character genetic mutation put the diagnosis of vitamin-resistant rickets type II.
Discussion: Vitamin-resistant ricket type II is a rare disease, the alopecia and the normal level of plasma 25 OH vitamin D is very suggestive of the diagnosis. The management of the disease is very difficult and requires a long term multidisciplinary approach.
Conclusion: Target gene therapy and genetic counselling offer hope of cure for children who do not respond to long-term high-dose replacement therapy.
Keywords: Vitamin-resistant ricket type II, alopecia, hypocalcemia, mutation genetic