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Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two
Insights
Congenital hypophosphataemic rickets was observed in siblings, suggesting autosomal recessive inheritance. This rare form may offer insights into the more common X-linked hypophosphataemic rickets.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Congenital hypophosphataemic rickets (CHHR) is a rare genetic disorder affecting phosphate metabolism.
- The X-linked form (XLH) is the most common, but autosomal recessive inheritance has been rarely reported.
Observation:
- Two sons from a consanguineous marriage presented with severe childhood rickets and lifelong hypophosphataemia.
- Clinical manifestations included gross osteosclerosis, extraskeletal ossification, persistent osteomalacia in one, and spinal cord compression in the other.
Findings:
- The observed cases are best explained by autosomal recessive inheritance of CHHR.
- This contrasts with the typically X-linked inheritance pattern of the more common form of rickets.
Implications:
- Understanding this autosomal recessive form can provide novel insights into the genetic basis of hypophosphataemic rickets.
- This may aid in developing targeted therapies for both rare and common forms of the disease.
Abstract:
We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalacia in one and spinal cord compression in the other. The genetics of this disease can be satisfactorily explained only on the basis of autosomal recessive inheritance, a mode which has only once before been reported in the literature. The severity of certain features, which would be expected in a homozygous state, may help our understanding of the more usual X-linked form.
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