Mounting evidence indicates that monogenic disorders are the underlying cause in a
significant proportion of chronic kidney disease patients. In recent years, the diagnostic yield …

Rationale & Objective Chronic kidney disease of unknown etiology (CKDUE) is one of the
main global causes of kidney failure. Genetic studies may identify an etiology in these …

Background: According to current evidence, every 10th to 11th adult with chronic kidney
disease (CKD) has a monogenic disease of the kidney. Methods: This review is based on …

Autosomal recessive polycystic kidney disease–PKHD1 (ARPKD-PKHD1) is characterized
by primary involvement of the kidneys and liver with mostly secondary effects seen in other …

Background: Clinical and pathological confirmation of the diagnosis for chronic kidney
disease (CKD) has limitations, with up to one-third of individuals remaining without a formal …

BACKGROUND: Autosomal recessive renal tubular dysgenesis is a rare, usually fatal
inherited disorder of the renin-angiotensis system (RAS). Herein, we report an adolescent …

Background The MUC1 gene is associated with autosomal dominant tubulointerstitial kidney
disease (ADTKD), leading to CKD. Current methods of sequencing, such as exome …

Clinical genetics is increasingly recognized as an important area within nephrology care.
Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes …

Background Frameshift variants in the variable number tandem repeat region of mucin-1
(MUC1) cause autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1) but are …

Background: The MUC1 gene is associated with autosomal dominant tubulointerstitial
kidney disease (ADTKD), leading to CKD. Current methods of sequencing, like exome …