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Results for “HYPOPHOSPHATEMIA, FAMILIAL”

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At least 865 records · Page 48Linked to original sources
PubMed1994

Low phosphate diet upregulates the renal and intestinal sodium-dependent phosphate transporter in vitamin D-resistant hypophosphatemic mice.

Renal and jejunal absorption of inorganic phosphate (P(i)) increases with dietary P(i) restriction in the rat. The defect in Na(+)-dependent phosphate transporter has been localized to the kidney of the Hyp mice; however, the adaptation to low-P(i) diet in both kidney and jejunum of the Hyp mice has not been well characterized. Therefore, the current studies were designed to characterize the adaptation of renal and jejunal Na(+)-dependent phosphate transport in the Hyp mice and compare it with normal mice. Low-P(i) diet significantly increased the slope of the initial rate of renal brush border membrane (BBM) phosphate uptake compared with corresponding values in mice raised on control-P(i) diet (0.035 vs 0.017) (P < 0.01). Kinetics of renal Na(+)-dependent phosphate uptake in Hyp mice showed a Vmax of 1.00 +/- 0.01 and 0.46 +/- 0.02 nmoles/mg protein/15 sec in low- and control-P(i) diets, respectively (P < 0.01), whereas, Km values were 0.07 +/- 0.04 and 0.02 +/- 0.01, respectively. Similar kinetic analysis in renal BBM of normal mice showed a Vmax of 2.4 +/- 0.17 and 1.18 +/- 0.09 (P < 0.01) and Km of 0.07 +/- 0.03 and 0.08 +/- 0.03 on low and control P(i) diets, respectively. Similarly, low-P(i) diet significantly increased the slope of the initial rate of intestinal phosphate uptake (0.013 and 0.007) (P < 0.01). Kinetics of jejunal Na(+)-dependent phosphate uptake in Hyp mice showed a Vmax of 0.36 +/- 0.01 and 0.2 +/- 0.02 nmoles/mg protein/15 sec, (P < 0.01) and Km of 0.13 +/- 0.06 and 0.06 +/- 0.01 mM in low- and in control-P(i) diet, respectively. Kinetic analysis in jejunal BBM of normal mice showed a Vmax of 0.47 +/- 0.04 and 0.18 +/- 0.01 nmoles/mg protein/15 sec (P < 0.01) and Km of 0.16 +/- 0.04 and 0.11 +/- 0.01 in low- and control-P(i) diets, respectively. The data indicates that low-phosphate diet upregulates the Vmax of the renal and jejunal Na(+)-dependent phosphate cotransporter in the hypophosphatemic mice.

Adaptation, Physiological↗
PubMed2000

Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. A case report.

BACKGROUND: Hypophosphatasia is a rare autosomal recessive metabolic disorder characterized by low serum and tissue alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and ricketslike changes in the bone. CASE: We present a case of prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. The case was diagnosed at 24.5 weeks of gestation. Sonographic evaluation revealed a fetus with short and deformed bones and a hypoechogenic skull. Based on the sonographic findings and the obstetric history of the couple, hypophosphatasia was diagnosed. The parents opted for pregnancy termination. Feticide was accomplished uneventfully. Laboratory findings confirmed the diagnosis. CONCLUSION: This couple was prone to this metabolic disorder due to their consanguineous marriage and previous affected fetus. Early-first-trimester prenatal diagnosis by first-trimester chorionic villus sampling or second-trimester measuring of alkaline phosphatase activity in the amniotic fluid is required to exclude this lethal disease in subsequent pregnancies.

Abnormalities, Multiple↗
PubMedDate not supplied

Axial osteomalacia with sacroiliitis and moderate phosphate diabetes: report of a case.

We report a new case of axial osteomalacia diagnosed in a 51-year-old white Caucasian male, made particular by its association with sacroiliitis, positive HLA-B27 antigen, and also moderate phosphate diabetes responsible for a decreased appendicular bone mass. The diagnosis was suspected when X-ray evaluation showed increased density and coarse trabeculation mainly involving the pelvis and spine. Dual energy X-ray absorptiometry confirmed the elevated bone density at the lumbar spine (T score: +1.92) contrasting with a decreased bone mass at the femoral neck (T score: -2.33). The diagnosis was confirmed by histomorphometry of the iliac crest showing marked thickening of the cortices (2190 microns +/- 0.574, N = 780 +/- 40) and an increased trabecular bone volume (33.24%, N = 14 +/- 3). Osteoid parameters were also markedly increased with an osteoid volume of 2.1% (N = 1.2 +/- 0.5) and a mean osteoid thickness of 28.7 microns (N = 13 +/- 2.5), with a normal bone fluoride content (0.082%, N < 0.10). Bone resorption as assessed on bone biopsy and by the measurement of markers of bone remodeling (serum procollagen type I C-terminal telopeptide and 24 hr urinary cross-laps to creatinine ratio) was increased. This latter finding was not necessarily due to axial osteomalacia and could be the consequence of moderate phosphate diabetes. The patient was treated with calcitriol which was promptly discontinued due to gastrointestinal symptoms and replaced by calcidiol without any significant effect on the low back pain.

Absorptiometry, Photon↗
PubMed2000

Growth hormone: do we have a national perspective of indications for its use?

OBJECTIVE: Presentation of indications for growth hormone use in children, from the view of physicians practising in Saudi Arabia. METHODS: A questionnaire containing a list of common possible indications of growth hormone use was collected from 52 physicians practising in Saudi Arabia who were attending a didactic endocrinology course. RESULTS: All (100%) physicians considered growth hormone deficiency to be an indication. Sixty four and 29% considered Turner's syndrome and chronic renal failure to be indications. Other indications included Russell-Silver syndrome in 23%, X-linked hypophosphatemic rickets in 10%, Achondroplasts in 10%, Sickle cell anemia in 10% and Bartter's syndrome in 2%. Genetic and constitutional short stature were considered in 17 and 19%. Only 65% did not advocate the use of growth hormone for short non-growth hormone-deficient children. CONCLUSION: Indications of growth therapy are not clearly defined in Saudi Arabia. It is indicated to define this by a clear, national decided criteria which should take into consideration the internationally approved indications, availability and cost of this hormone.

Achondroplasia↗