title: Familial hypophosphataemic rickets: experience with 24 children from Kuwait.
abstract: Between 1982 and 1988, familial hypophosphataemic rickets (FHR) was diagnosed in 24 children, in nine during screening of the families of index patients. The average annual incidence was 0.2/1000 live births. There were 16 boys and 8 girls in 10 families, of which nine had more than one affected child. Their ages at the onset of the disease ranged between 10 months and 14 years (mean 6.9 yrs). Growth retardation and bowing of the legs were the most prominent features, observed in all index patients and in four of the patients diagnosed by screening. Treatment with 1 alpha-hydroxyvitamin D3 and phosphates was associated with acceleration of growth in all children, healing of rickets in 21, and normalization of the serum phosphate in 22. Two children with late diagnosis are now older than 16 years with a final height below the 3rd centile. Three more pubertal children are also shorter than the 3rd centile. In areas where nutritional rickets is common, FHR is likely to be missed and the treatment delayed with grave consequences; in particular, growth retardation and bone deformity.
authors.affiliation: Department of Paediatrics, Farwaniya Hospital, Kuwait.
authors.forename: M M
authors.initials: MM
authors.lastname: Lubani
authors.forename: F A
authors.initials: FA
authors.lastname: Khuffash
authors.forename: P C
authors.initials: PC
authors.lastname: Reavey
authors.forename: D C
authors.initials: DC
authors.lastname: Sharda
authors.forename: T S
authors.initials: TS
authors.lastname: Alshab
mesh_terms: D000293:Adolescent; D001846:Bone Development / Q000502:physiology; D002118:Calcium / Q000097:blood; D002648:Child; D002675:Child, Preschool; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D007015:Hypophosphatemia, Familial / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology*; D007223:Infant; D007730:Kuwait / Q000453:epidemiology; D008297:Male; D010710:Phosphates / Q000627:therapeutic use; D011446:Prospective Studies; D012279:Rickets / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology*
chemical_list: D006887:Hydroxycholecalciferols; D010710:Phosphates; D002118:Calcium