X Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is known as the most common hereditary metabolic rickets with a prevalence of 1:20,000- 60,000. Manifestations are bone deformities (particularly bowing of the lower extremities), bone pain, reduced growth, low serum phosphate with inappropriately normal serum 1,25(OH)2D levels, and phosphate wasting in the urine. Both man and women are affected. The cause is genetic mutation is of the phosphate-regulating gene PHEX resulting in reduced phosphate reabsorption by the kidneys, low blood phosphate, and as a consequence ‘weak’ bones. There is a general lack of awareness of XLH, which frequently leads to missed diagnoses and mismanagement.

Last modified
30 August 2019
Abbreviation
XLH
OMIM

X-linked hypophosphatemia

307800

ORPHA

X-linked hypophosphatemia

ORPHA:89936

General Medical Guideline
Reduced phosphate reabsorption by the kidneys Low blood phosphate Bone deformities
Disease
Symptom
The most frequent and typical presentation of rickets is bowing of the long bones, especially leg bowing. Bowing of the bone manifests from the age...
XLH is inherited in an X-linked dominant manner. This is because the gene responsible for the condition is located on the X chromosome, and having...
Bone and or joint pain in rickets develops progressively once toddlers start standing and walking.
Stunted growth may be the revealing symptom in de novo XLH children; noteworthy, growth velocity is always poor at the time of diagnosis in those...
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