Autosomal dominant tubulointerstitial kidney disease: of names and genes

A review on autosomal dominant tubulointerstitial kidney disease.

In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease ha...

Autosomal dominant polycystic kidney disease: modifier genes and endothelial dysfunction.

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple cysts in both kidneys, causing progressive renal failure. By the age of 60 years, about half the patients with ADPKD have end-stage renal disease (ESRD). In Europe and North America, ADPKD is responsible for 5–10% of the patients requiring renal replacement therapy [1]. ADPKD is also characteriz...

Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation ...

Autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepati...