This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, chi...

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...

conclusions this case highlights the fact that fhr and ghd may coexist, with possible masking effect of one on the other, thereby misleading the approach, posing large impacts on therapy, which has historically been a difficult challenge in fhr patients. introduction coincided familial hypophosphatemic rickets (fhr) and hypopituitarism is a rare condition. growth hormone deficiency (ghd) evalua...

Introduction Familial hypophosphatemic or X-linked hypophosphatemic (XLH) rickets is the most common form of non-nutritional rickets1. The prevalence of XLH rickets yet remain unknown in Bangladesh. It is an Xlinked dominant disorder characterized by renal phosphate wasting with consequent defect of bone mineralization1. Some form of the disease are observed to be transmitted which followed an ...

In a case of familial hypophosphatemic rickets, marked bone thickening caused narrowing of the optic canals, resulting in bilateral optic atrophy. The case also showed metastatic calcification in the walls of both globes.

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...

Familial hypophosphatemic rickets is transmitted in most cases as an X-linked dominant trait and results from the mutation of the PHEX gene predominantly expressed in osteoblast and odontoblast. Patients with rickets have been reported to display important dentin defects. Our purpose was to explore the structure, composition and distribution of noncollagenous proteins (NCPs) of hypophosphatemic...

The child had been born to a 19-year-old gravida 2, para 2 mother via cesarean birth secondary to malpresentation and fetal distress. The child weighed 3.06 kg at birth. She currently weighed 6 kg (5th percentile); she was 62 cm tall (5th to 25th percentile); head circumference, 46 cm (95th percentile or higher). Laboratory findings: calcium, 9.7 mg/dL; phosphorus, 2.8 mg/dL, immunoreactive par...

We report the development of severe tertiary hyperparathyroidism in three girls treated for familial hypophosphatemic rickets and characterize parathyroid function in vivo and in vitro. All patients had been previously treated with relatively large doses of inorganic phosphorus (125 mm/day) and ergocalciferol or calcitriol for several years and had radiographic evidence of long-standing hyperpa...