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Familial hypophosphatemic rickets in Child
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Familial hypophosphatemic rickets in Child

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Contributors: Scott Echternacht, Catherine Moore MD, Michael W. Winter MD
Other Resources UpToDate PubMed

Synopsis

Familial hypophosphatemic rickets is a group of familial disorders characterized by hypophosphatemia and rickets as well as resistance to physiologic vitamin D repletion. The most common of these is X-linked hypophosphatemic rickets (XLH), in which an inactivating mutation leads to elevated serum FGF-23 levels, resulting in renal phosphate wasting.

Some forms may be inherited in an autosomal dominant or recessive pattern. Familial hypophosphatemic rickets is sometimes associated with benign tumors that produce a humoral factor that decreases proximal renal tubular resorption of phosphate.

Clinical presentation is variable and typically presents after 18 months of age or when the pediatric patient begins to walk. Symptoms range from growth retardation and short stature to severe rickets or osteomalacia. Some patients have isolated hypophosphatemia detected on serologic testing. The typical presentation is a child with leg bowing and other bone deformities, pseudo-fractures, bone pain, and short stature. Rarely, a patient may present with tetany, dental enamel defects, and spine or pelvic rickets.

Treatment consists of oral phosphate supplementation and calcitriol. Adult patients with familial hypophosphatemic rickets of oncogene origin will usually improve once the tumor causing the disease is removed.

For information on X-linked dominant variety, see OMIM.

For information on autosomal dominant variety, see OMIM.

Codes

ICD10CM:
E83.31 – Familial hypophosphatemia

SNOMEDCT:
72831007 – Vitamin D-dependent rickets, type 2

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Dent disease
  • Tumor-induced osteomalacia – more commonly presents in adulthood, which distinguishes this disease from the familial type
  • Hereditary hypophosphatemic rickets with hypercalciuria
  • Idiopathic hypercalciuria
  • Epidermal nevus syndrome
  • McCune-Albright syndrome
  • Vitamin D deficiency rickets

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 05/07/2019
Last Updated: 05/14/2019
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Familial hypophosphatemic rickets in Child
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Familial hypophosphatemic rickets (Adult) : Fatigue, Bone pain, Gait disturbance, Hearing loss, Hypophosphatemia, Short stature, Weakness
Imaging Studies image of Familial hypophosphatemic rickets
Severe osteopenia (with a blurry lucent/sclerotic appearance), with multiple looser zones involving the tibia, resulting in lateral bowing and a healing fracture of the proximal fibula. Findings are compatible with the clinical history of hypophosphatemic rickets.
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