Tubulointerstitial Kidney Disease, Type 2, Autosomal Dominant; ADTKD2 (also known as Medullary Cystic Kidney Disease 1; MCKD1
Tubulointerstitial Kidney Disease, Type 2, Autosomal Dominant; ADTKD2 (also known as Medullary Cystic Kidney Disease 1; MCKD1
OMIM number: 174000
Comments closing date: 23/09/2022
Medullary Cystic Kidney Disease (MCKD) leads to
chronic kidney failure often requiring either dialysis
or kidney transplant. MCKD is most commonly
caused by mutations in the UMOD or MUC1
genes. There is already a PGT-M license in place
for MCKD due to mutations in the UMOD gene
(MCKD2). This application is for MCKD caused by
mutations in the MUC1 gene (MCKD1). MCKD1 is
also inherited in an autosomal dominant manner
and has 100% penetrance, but leads to more
severe chronic kidney disease and end stage
kidney disease at an earlier age with a higher
prevalence than MCKD2. Onset of end stage
kidney disease occurs at an average of 36 years.
Review date: 5 January 2025