in disorders of calcium metabolism. Ann Clin Biochem 1988;25:367-82. 2. Sherwood LM. Vitamin D, parathyroid hormone, and renal failure. N Engl J Med 1987;316:1601-2. 3. Malluche HH, FaugereMC. Renal osteodystrophy. N Engi J Med 1989;321:317-9. 4. Andress DL, Norris KC, Coburn JW, Slatopolsky EA, Sherrard DJ. Intravenous calcitrol in the treatment of refractory osteitis fibrosa of chronic renal ...

Vascular calcification (VC) occurs frequently in chronic kidney disease, contributing to cardiovascular mortality. Numerous risk factors have been identified, including renal osteodystrophy and bone turnover, with low turnover as a main determinant. Other reports support high turnover as a factor in VC. Calcimimetics, which lower serum parathyroid hormone, and parathyroidectomy each prevented V...

Pseudohypoparathyroidism is a rare disorder which is characterized by end organ parathormone resistance, which causes hypocalcaemia, hyperphosphataemia and high parathormone levels. We are reporting here case of a young male who had symptoms of chronic hypocalcaemia, with a positive Trousseau's and Chvostek's sign on examination, without any features of Albright's hereditary osteodystrophy. Lab...

DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated individuals with without deafness. Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G, p.Pro172Arg) both. We demonstrate impaired glycosylphosphatidylinositol (GPI) biosynthesis through flow cytometry analy...

INTRODUCTION Pathological bilateral femoral neck fracture due to renal osteodystrophy is rare. This is a report of a chronic renal failure patient who had sustained bilateral intra-capsular displaced fracture neck of femur following an episode of convulsion and the difficulties encountered in early diagnosis and treatment. The pathophysiology of renal osteodystrophy and the treatment of hip fra...

Pseudohypoparathyroidism (PHP) type Ia is characterized by hypocalcemia due to PTH resistance and by features of Albright's hereditary osteodystrophy, including short stature, obesity, subcutaneous calcification and brachydactyly. A wide variety of clinical and biochemical manifestations have been reported. We report two cases of PHP type Ia in duozygotic twins with different phenotypes. The pr...

Pseudohypoparathyroidism type Ia (PHP-Ia), one of 4 types of PHP, is a genetic disease characterized by clinical hypoparathyroidism caused by parathyroid hormone (PTH) resistance. In addition, patients with PHP-Ia show resistance to other hormones as well as Albright's hereditary osteodystrophy (AHO), a constellation of features including short stature, obesity, brachydactyly, ectopic ossificat...