ALLMedicine™ Nephrocalcinosis Center

Jun 28th, 2022 - Sarcoidosis is a systemic inflammatory disease of unknown etiology. The pathogenesis rests on an aberrant T cell response to unidentified antigens in individuals predisposed by genetic and environmental factors. Increased expression of polarized m...

Jun 12th, 2022 - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an i...

Jun 10th, 2022 - Autosomal recessive disorders are prevalent in Pakistan, a developing South Asian country where consanguineous marriages are common. This study seeks to determine the prevalence of monogenic causes in children presenting with nephrocalcinosis and ...

Jun 7th, 2022 - Primary hyperoxaluria (PH) is a rare heterogeneous, autosomal recessive disorder of glyoxylate metabolism. It is characterized by excessive hepatic production of oxalate resulting in a wide spectrum of clinical, imaging, and functional presentatio...

Jun 7th, 2022 - Rationale: Documented roles for vitamin D in calcium homeostasis, cardiovascular and respiratory health, innate immunity, and neuromuscular function have led to the hypothesis that vitamin D deficiency (VDD) represents a modifiable risk factor for...

May 2nd, 2012 - Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary...

Jun 7th, 2022 - Rationale: Documented roles for vitamin D in calcium homeostasis, cardiovascular and respiratory health, innate immunity, and neuromuscular function have led to the hypothesis that vitamin D deficiency (VDD) represents a modifiable risk factor for...

May 16th, 2022 - Hyperoxaluria due to fat malabsorption is seen in patients suffering from short bowel and can lead to stones and nephrocalcinosis. Not all patients are prone to these renal complications. only urinary oxaluria is measured in practice. Plasma oxala...

Apr 25th, 2022 - One of the developmental enamel defects, amelogenesis imperfecta (AI), is also known as enamel hypoplasia/hypomineralization. It is a rare inherited disease that affects the enamel structure, amount and component in primary and permanent teeth, an...

Apr 4th, 2022 - Detailed: DiGeorge Syndrome is a complex of three problems, 1) cardiac defects, 2) parathyroid deficiency, and 3) absence of the thymus, resulting in profound T-cell deficiency. There is a spectrum of disease in DiGeorge syndrome with respect to a...

Mar 25th, 2022 - DiGeorge anomaly is a congenital disorder in which infants are born with defects of the thymus, heart, and parathyroid gland. Complete DiGeorge Anomaly is usually fatal within the first two years of life. This trial evaluates the role of cultured ...

Sep 13th, 2021 - Gene therapy, new therapeutics currently in clinical trials, and a promising dietary supplement are feeding the optimism of kidney stone expert Glenn Preminger, MD. Glenn Preminger "The future of kidney stones looks exceedingly bright," said Premi...

Feb 19th, 2021 - Editor's Note: The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills us...

Nov 24th, 2020 - The US Food and Drug Administration (FDA) has approved lumasiran (Oxlumo, Alnylam Pharmaceuticals) subcutaneous injection to treat children and adults with primary hyperoxaluria type 1 (PH1), an ultra-rare genetic disorder that causes recurrent ki...

Feb 21st, 2020 - Nephrocalcinosis is a condition characterized by the calcification of the renal tubules that leads to renal insufficiency. This occurs via metastatic calcification, which means that calcium is deposited in normal tissues, rather than those that ha...

Feb 3rd, 2016 - NEW YORK (Reuters Health) - A young woman with end-stage nephrocalcinosis secondary to congenital absence of parathyroid glands has received a simultaneous living donor kidney and parathyroid gland transplant, Chicago-based researchers report. In ...