Autosomal dominant tubulointerstitial kidney disease (ADTKD)

ADTKD, previously known as medullary cystic kidney disease, is a group of rare inherited conditions causing progressive kidney damage and eventual kidney failure, typically in adulthood, due to abnormalities affecting the kidney's tubules. It's distinct from the more common polycystic kidney disease.

It's caused by mutations in one of several specific genes involved in kidney tubule function, inherited in an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to each child. Different specific gene mutations can cause somewhat different patterns and rates of progression.

Symptoms often develop gradually and can include increased urination, gout (in certain genetic subtypes), and gradually worsening kidney function, eventually leading to kidney failure, typically in mid-adulthood. Some subtypes have additional specific features depending on the gene involved.

Yes, it typically progresses to kidney failure over time, usually requiring dialysis or transplant eventually, though the rate of progression varies depending on the specific genetic subtype. Regular monitoring helps track kidney function and plan for future treatment needs.

Yes, it's an inherited genetic condition, and genetic testing can confirm the diagnosis and identify the specific subtype, which helps predict the likely course and any additional features. Genetic counselling is important for affected families given the autosomal dominant inheritance pattern.

There's no cure for the underlying genetic condition, but management focuses on supporting kidney function for as long as possible, managing any associated symptoms like gout, and planning for dialysis or transplant when kidney failure develops. Regular nephrology follow-up helps guide this ongoing management.

Diagnosis typically involves blood and urine tests showing a characteristic pattern of kidney tubule dysfunction, imaging that may show small kidneys with or without cysts, and genetic testing to confirm the specific mutation. A family history of similar kidney problems is often an important diagnostic clue.

Management involves regular monitoring of kidney function, treatment of any associated symptoms such as gout, and general kidney-protective measures, with planning for dialysis or transplant as kidney function progressively declines. A specialist nephrology team provides this ongoing, long-term care.

ADTKD involves a different pattern of kidney tubule damage, often with smaller kidneys and fewer or no significant cysts, and different specific genetic causes than polycystic kidney disease, which typically causes numerous large cysts and significantly enlarged kidneys. Genetic testing distinguishes between these different inherited kidney conditions, which is important given their different associated features and monitoring needs.

Unexplained progressive kidney impairment, particularly with a family history of similar kidney problems, should prompt nephrology and genetics assessment. Private nephrology consultations can typically be arranged within about two weeks, considerably faster than standard NHS waiting times.