A 16-year-old girl with anorexia nervosa first presented with malnutrition, liver dysfunction, and rhabdomyolysis. Administration of fluid and nutrition saved her from the initial critical state, but acute renal failure followed. Laboratory examination revealed intrinsic renal failure induced by rhabdomyolysis. Latent phosphate depletion and refeeding-induced hypophosphatemia was implicated as ...

The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic tes...

The association of osteomalacia with neurofibromatosis is a very rare entity. Here a 34 year old man, a known case of neurofibromatosis, is reported who presented with bone pain, hypophosphatemia, rena] phosphorus wasting, multiple Looser's pseudofractures, and low bone density. Treatment with high dose calcitriol and phosphate resulted in temporary treatment. Permanent cure was achieved a...

X-linked hypophosphatemia (XLH) is characterized by mutations in the PHEX gene, leading to elevated serum levels of FGF23, decreased production 1,25 dihydroxyvitamin D3 (1,25D), and hypophosphatemia. Those affected with XLH manifest impaired growth skeletal dentoalveolar mineralization as well increased tendon–bone attachment site (enthesopathy), all which lead quality life. Many molecular muri...