Familial hypophosphatemic rickets Disease

About Gene:

Familial-hypophosphatemic rickets is a congenital disorder that is characterized by low levels of phosphate in the blood. As phosphate is essential for healthy bone density, low phosphate levels compromise bone strength and lead to limb deformation.

Number of Patients: 1

Disease Causing Genes:

PHEX FGF23 VDR ABCC6 NPR2 SLC34A1

Sign and Symptoms:

  1. Stunted growth
  2. Dental caries
  3. Polyuria
  4. Dysuria
  5. Jaundice
  6. Recurrent Diarrhoea

Diagnosis:

(1) Medical history collection (2) Physical examination (3) X-ray (4) Biochemical examination

Preventions:

Treatment:

Symptomatic treatment includes: - adminstation of oral phosphate suspension, active from of vitamin D and Dicatrol capsule