Osteopetrosis in children

Over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis an...

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Published inInternational journal of clinical practice (Esher) Vol. 52; no. 1; p. 15
Main Authors al-Rasheed, S A, al-Mohrij, O, al-Jurayyan, N, al-Herbish, A, al-Mugeiren, M, al-Salloum, A, al-Hussain, M, el-Desouki, M
Format Journal Article
LanguageEnglish
Published England 01.01.1998
Subjects
Acidosis, Renal Tubular - complications
Adolescent
Child
Child, Preschool
Female
Humans
Infant
Male
Osteopetrosis - diagnosis
Osteopetrosis - genetics
Osteopetrosis - metabolism
Saudi Arabia
Saudi Arabia
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Summary:Over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset. Parental consanguinity was 56% and 40% among patients with and without acidosis respectively. Somatic and psychomotor retardation and recurrent bone fractures were common in both groups. Dental caries, cerebral calcification and optic atrophy were more frequent in patients with acidosis, while anaemia, hepatosplenomegaly and deafness were more common in patients without acidosis. To guarantee optimal rehabilitation, children with this progressive disease require an early multiteam approach.
ISSN:1368-5031
DOI:10.1111/j.1742-1241.1998.tb11551.x