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...

Hereditary hypophosphatemic rickets represented by X-linked hypophosphatemic rickets (XLH) is a rare disorder characterized by hypophosphatemia, elevated alkaline phosphatase (ALP) and undermineralization of bone. Active vitamin D and phosphate are administered to correct hypophosphatemia and elevation of ALP. Overtreatment with phosphate leads to secondary hyperparathyroidism, and a large dose...

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 can manifest with a wide variety of rheumatic symptoms. In this paper, a fifteen year old female patient with hypophosphatemic rickets presenting with symptoms suggesting sacroiliitis at disease onset is reported. The sacroiliac joint involvement in this case was attributed to the subchondral bone fractures due to the secondary hyperparathyroidism. Her symptoms resolved completely after...

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...

BACKGROUND Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. CASE CHARACTERISTICS 13-year-old Indian girl presented with deafness since infancy and progressive wrist wide...

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 ...

Secondary hyperparathyroidism is an unusual complication of hypophosphatemic rickets during the treatment. As there is growing evidence that a high phosphate diet may induce secondary hyperparathyroidism and even tertiary hyperparathyroidism caused by hyperplasia of the parathyroid glands. Serum calcium, phosphate and also parathyroid hormone should be measured regularly to catch the early diag...

Fibroblast growth factor 23 (FGF23) is a circulating factor that plays a central role in the renal reabsorption of Pi and metabolism of vitamin D. It is mainly produced by osteocytes in bone and exerts its effects on distant organs such as the kidney and parathyroid in an endocrine fashion. FGF23 increases renal Pi excretion by reducing the expression of type 2a and 2c sodium/phosphate (Na/Pi) ...

X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) have been found to be associated with XLH. Here, we report a 16-year-old female patien...