Osteopetrosis in children

Area of Science:

• Pediatrics
• Genetics
• Metabolic Bone Diseases

Background:

• Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder affecting bone resorption.
• This study focuses on the clinical presentation and associated conditions of ARO in Arab children in Saudi Arabia.

Purpose of the Study:

• To describe the clinical spectrum of autosomal recessive osteopetrosis in a cohort of Arab children.
• To identify associated conditions and risk factors, such as parental consanguinity and metabolic acidosis.
• To emphasize the need for early, multidisciplinary management.

Main Methods:

• Retrospective case series analysis of 28 Arab children diagnosed with ARO over a 10-year period.
• Clinical data including presenting symptoms, associated metabolic defects, and family history were reviewed.
• Comparison of clinical features between patients with and without metabolic acidosis.

Main Results:

• The study identified 18 children (64%) with ARO and metabolic acidosis, likely due to renal tubular defects.
• Nine children (32%) presented with the malignant infantile form, and one had a mild, delayed-onset form.
• Parental consanguinity was noted in 56% of patients with acidosis and 40% without.
• Common features included somatic/psychomotor retardation and bone fractures.
• Acidosis group: higher incidence of dental caries, cerebral calcification, optic atrophy.
• Non-acidosis group: higher incidence of anemia, hepatosplenomegaly, deafness.

Conclusions:

• Autosomal recessive osteopetrosis in this cohort exhibits diverse clinical manifestations, with metabolic acidosis being a frequent comorbidity.
• Parental consanguinity is prevalent, suggesting a genetic predisposition.
• The distinct clinical profiles associated with acidosis warrant specific diagnostic and management considerations.
• Optimal rehabilitation necessitates an early, comprehensive, multidisciplinary approach for affected children.