The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which
specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting …

Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS)
variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease …

Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of
endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually …

Background Three pregnancies with male offspring in one family were complicated by severe
polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-…

Mammalian kidneys constantly filter large amounts of liquid, with almost complete retention
of albumin and other macromolecules in the plasma. Breakdown of the three-layered renal …

Results Mean relative Uox reduction was 25.5%. Uox declined from 2.09±0.55 (mean±SD)
at baseline to 1.52±0.60 mmol/1.73 m 2 per day (P= 0.01) at week 24. Serum B6 levels …

Results The overall mutation detection rate was high at 57%(97% in CNS and 41% in SRNS);
85% of all mutations were identified by the analysis of three single genes only (NPHS1, …

Primary hyperoxaluria type 1 displays a heterogeneous phenotype, likely to be affected by
genetic and non-genetic factors, including timeliness of diagnosis and quality of care. As …

For decades, ill-defined autosomal dominant renal diseases have been reported, which
originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These diseases …

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common
genetic type of functional cobalamin (vitamin B 12 ) deficiency. This metabolic disease is …