Evaluation of treatment of hereditary rickets in Egyptian children

الملخص EN

Background: Rickets is the clinical consequence of impaired mineralization of bone matrix throughout the growing skeleton.

Rickets is one of the most common non-communicable diseases of children in the developing world (Craviari et al., 2008).

Although nutritional rickets is the most common type of this disease, there are several other forms, including genetic disorders of vitamin D metabolism or phosphate transport.

Although rare, hereditary hypophosphataemic rickets is the most common form of heritable rickets (Caetano et al., 2012).

Patients and MethodsZ This descriptive and prospective study included 13 Egyptian children with hereditary rickets who were recruited from the Limb Malformations and Skeletal Dysplasia Clinic, National Research Centre from January 2010 to December 2012.

They were classified into calcipenic and phosphopenic rickets according to basal calcium and phosphorous serum levels and received medications accordingly.

Results: Thirteen children with hereditary rickets were studied, with a median age at presentation of 3 years (IQR 2.0- 4.3) four of which were calcipenic (30.8%) and nine cases were hypophosphatemic rickets (69.2%).

All patients had bone deformities mainly bowing of legs with genu valgum, bony pain and broad wrists and ankles.

Growth retardation was present in all patients except two with hypophosphatemic rickets.

One patient of calcipenic rickets showed clinical and laboratory improvement thus suggesting the diagnosis of 1-Hydroxylase Deficiency, however the other 3 patients were resistant to treatment and one of them had alopecia totalis with the most severe clinical phenotype indicating the diagnosis of hereditary vitamin D-resistant rickets (HVDRR).

Nine patients had hypophosphatemic rickets.

They were treated with calcitriol at a dose of 0.5μ/kg/day and oral phosphorous.

Improvement in bony pains and rachitic manifestations was noted but no improvement was detected in growth in the short cases.

Two patients developed secondary hyperparathyroidism due to overtreatment with phosphorous.

Conclusion: Hereditary rickets comprise a rare group of metabolic bone disorders with significant long-term morbidity.

They should be suspected in children presenting with short stature, developmental delay and orthopedic abnormalities with increased alkaline phosphatase, low serum phosphorus or calcium which confirm the diagnosis.

Early diagnosis and treatment are essential to minimize morbidity in children.