Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...

a 13 year- old girl had rickets clinically evident sicne she was 10 years of age. she received multiple doses of vitamin d3 without improvement.this patient manifested an unusal form of hypophosphatemic rickets with hypercalciuria. it is recommended that urinary calcium excretion be assessed in all patients with hypophosphatemic rickets before the initiation of any therapy

Rickets develops when growing bones fail to mineralize. In most cases, the diagnosis is established with a thorough history and physical examination and confirmed by laboratory evaluation. Nutritional rickets can be caused by inadequate intake of nutrients (vitamin D in particular); however, it is not uncommon in dark-skinned children who have limited sun exposure and in infants who are breastf...

Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treat...

1. Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand 73(1):149–54, 1984 2. Currarino G. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. Pediatr Radiol 37(8):805–12, 2007 3. Freudlsperger C, Hoffmann J, Castrillon-Oberndorfer...

Overexpression of FGF23 results in hypophosphatemic rickets, which is characterized by renal phosphate wasting, inappropriately low circulating levels of the active form of vitamin D, and skeletal abnormalities. The precise mechanisms of how excess FGF23 leads to hypophosphatemic rickets are not clear. In this issue of the JCI, Bai and colleagues demonstrate that deletion or inhibition of CYP24...

Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic d...

1. Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand 73(1):149–54, 1984 2. Currarino G. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. Pediatr Radiol 37(8):805–12, 2007 3. Freudlsperger C, Hoffmann J, Castrillon-Oberndorfer...