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Results for “HYPOPHOSPHATEMIA, FAMILIAL”

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At least 919 records · Page 51Linked to original sources
PubMed2003

Hip pain in a case of hypophosphatemic osteomalacia.

Hypophosphatemic rickets, a rare metabolic bone disease, presents mainly in children but has also been reported in several adults. In this report, we describe the case of a man presenting with hip pain and weakness, both of several months' duration, and tested for hypophosphatemic rickets. The patient was eventually referred to a tertiary-care center, where he was diagnosed with bilateral subtrochanteric femoral stress fractures and severe osteopenia secondary to hypophosphatemic osteomalacia. The patient was treated with closed reduction and internal fixation and vitamin D and phosphorus. Outcomes were good at 7-month follow-up.

Arthralgia↗
PubMed2004

[Establishment of assay system for fibroblast growth factor (FGF)-23 and pathophysiological roles of FGF-23 in the development of hypophosphatemic diseases].

Rickets/osteomalacia is characterized by impaired mineralization of bone matrix. X-linked hypophosphatemic rickets/osteomalacia(XLH), autosomal dominant hypophosphatemic rickets/osteomalacia(ADHR) and tumor-induced rickets/osteomalacia(TIO) share common clinical features including impaired proximal tubular phosphate reabsorption. Fibroblast growth factor(FGF)-23 was positionally cloned as a responsible gene for ADHR. We have also cloned FGF-23 as a causative factor for TIO. FGF-23 is a polypeptide with 251 amino acids. FGF-23 is proteolytically cleaved between Arg179 and Ser180 and only full-length FGF-23 showed biological activity to induce hypophosphatemia. Using two monoclonal antibodies that recognize N-terminal and C-terminal portion of the processing site of FGF-23, sandwich enzyme-linked immunosorbent assay for FGF-23 was established. This assay detects only full-length FGF-23. Circulatory level of FGF-23 in healthy controls distributed between 10 to 50 pg/ml suggesting that FGF-23 is a physiological humoral factor. FGF-23 levels in patients with TIO were elevated and rapidly decreased after removal of responsible tumors for TIO. These results confirm that FGF-23 is a causative factor of TIO and indicate that measurement of FGF-23 is useful for diagnosis and management of TIO. Moreover, FGF-23 levels were elevated in most patients with XLH suggesting FGF-23 is also involved in the pathogenesis of XLH. Further analysis is required to clarify more detailed actions of FGF-23 and its roles in the development of other diseases with disordered phosphate metabolism.

Enzyme-Linked Immunosorbent Assay↗
PubMed2004

[FGF-23].

Explore the source record for details and available documents.

Animals↗
PubMed2004

[VDR function in skin].

Typical abnormalities of hereditary rickets type II patients were observed in the mice deficient of VDR with growth retardation, impaired bone formation and alopecia. Except alopecia, all of the abnormalities were rescued by dietary supplement of high minerals. Genetic mutations in the critical vitamin D biosynthesis enzyme in humans and mice also suffer rachtic phenotypes except alopecia. The function of VDR in skin will be discussed.

25-Hydroxyvitamin D3 1-alpha-Hydroxylase↗
PubMed2005

Non-azotemic refractory rickets in Indian children.

In order to examine the etiology of refractory rickets, we evaluated the case records of patients presenting between 1990 and 2002. Subjects with impaired renal functions were excluded. Of 131 patients, 25.9 % each had hypophosphatemic rickets and distal renal tubular acidosis (RTA), 19.6 %vitamin D dependent rickets (VDDR), 11.3 % proximal RTA, 9.1 % liver disease and 6.1 % malabsorption. A significant proportion of patients with VDDR and proximal RTA showed deformities in the first year of life, whereas those with distal RTA and hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs; hypercalciuria was found in 4. Distal RTA was associated with marked rickets and normal levels of alkaline phosphatase. Hypophosphatemia and low tubular reabsorption of phosphate, though characteristic of hypophosphatemic rickets, was also seen in patients with VDDR (19.2%) and distal RTA (17.6 %). Our findings suggest that application and interpretation of appropriate investigations are useful in determining the cause of non-azotemic refractory rickets allowing initiation of specific therapy.

Acidosis, Renal Tubular↗
PubMed1992

[Male osteoporosis, an unrecognised etiology: moderate idiopathic proximal tubulopathy (MIPT)].

Routine renal tubular investigations in 8 osteoporotic men, in whom phosphorus/calcium balance studies were normal or almost normal revealed moderate phosphorus (PD) or bicarbonate (BD) diabetes possibly responsible for their decalcification. Osteoporosis affected the spine and lower limbs, resulting in clinical pictures of frequently recurrent spontaneous algodystrophy. Histomorphometric studies revealed an increase in surface areas of resorption, the diagnosis of PD being based upon the finding at several successive investigations, in the absence of any drug treatment, of a phosphorus clearance of greater than 20 ml/min and/or a phosphorus reabsorption level of less than 80%. Arterial HC03 levels of greater than 21 mEg/l and a fractional bicarbonate excretion (FBE) of greater than 15% enabled the diagnosis of bicarbonate diabetes (proximal tubular acidosis). These cases of PD and BD appeared to be secondary to proximal tubulopathies for which no known etiology was found.

Acidosis, Renal Tubular↗
PubMed2005

Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.

Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. In this study, we report 2 de novo novel mutations in 2 Taiwanese girls with clinical characteristics of hypophosphatemic rickets. The presenting phenotype of lower extremity deformities and short stature was suggestive of the diagnosis. Primers flanking 22 exons were used to amplify DNA by polymerase chain reaction. The results by direct DNA sequencing of case 1 revealed a C to T transition changing glutamine at codon 224 in exon 6 to a stop codon (Q224X). The result of case 2 showed a 2-base pair deletion (2090delGA) and resulted in a frameshift and premature termination of codon (PTC+19aa). Both mutations presumably result in a truncated protein, leading to loss of function of PHEX. This is the first report of PHEX gene mutation in the Taiwanese population.

Adolescent↗
PubMed2004

[Vitamin D-resistant rickets].

Vitamin D-resistant rickets is a group of rare disease characterized by lack of reaction to vitamin D administered in doses sufficient to manage patients with rickets caused by vitamin D deficiency. These disorders result from disturbed metabolism and activity of vitamin D and/or disturbed phosphate metabolism. The most common vitamin D-resistant form of rickets is X-linked hypophosphatemic vitamin D-resistant rickets. Other forms are as the following: oncogenic hypophosphatemic osteomalacia, autosomal dominant hypophosphatemic rickets, hereditary hypophosphatemic rickets with hypercalciuria and pseudo-vitamin D deficient rickets type I and II.

Humans↗
PubMed2005

Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature.

X-linked hypophosphatemic rickets (XLH) is a dominant disorder characterized by hypophosphatemia due to impaired renal tubular reabsorption of inorganic phosphate. Cardinal manifestations include defective calcification of cartilage and bone, growth retardation and resistance to phosphorus and vitamin D therapy. Although secondary hyperparathyroidism (HPT) is a common complication of treatment, autonomous HPT is rare, especially in the absence of previous phosphate therapy. We report a case of an adult untreated male XLH patient with primary HPT and give a brief review of the literature regarding the prevalence and pathophysiology of this complication.

Humans↗