Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Autosomal dominant tubulointerstitial kidney disease

What is Autosomal dominant tubulointerstitial kidney disease?

 

Description from GARD, https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of genetic kidney diseases that cause progressive loss of kidney function. Signs and symptoms of all forms of ADTKD include slowly worsening kidney disease (often becoming apparent by the teenage years) that ultimately results in end-stage kidney disease at some time between the ages of 20 and 70, depending on the genetic cause and severity. People with ADTKD have an abnormal presence of microscopic particles in the urine (called bland urine sediment), which signifies that a chronic kidney problem is present. Some people with ADTKD have cysts in the center of the kidneys (medullary cysts) that may be seen on an ultrasound.[1]

There are 3 known subtypes of ADTKD, which are classified based on their genetic causes and presence of additional features:[1][2][3]

  • Uromodulin kidney disease (UKD) - caused by a mutation in the UMOD gene. This is the most common subtype and additionally causes gout (a form of arthritis), sometimes as early as the teenage years. The age of onset of kidney disease varies significantly.
  • ADTKD due to REN mutations (ADTKD-REN) - caused by a mutation in the REN gene, which causes an abnormal, toxic form of the protein renin to be made by the kidneys. This subtype additionally causes anemiain childhood (before kidney disease begins), low or low-normal blood pressure, mildly high levels of potassium in the blood (hyperkalemia), and high levels of uric acid in the blood (hyperuricemia). Kidney disease is usually present in childhood.
  • Mucin-1 kidney disease (MKD) - caused by a mutation in the MUC1 gene. This subtype typically does not cause features in addition to chronic kidney disease, although some develop gout in adulthood. The age of onset of kidney disease varies significantly.

In some cases, the genetic cause of ADTKD in a family is not known. People with ADTKD of unknown cause typically do not have features in addition to chronic kidney disease (as is the case for MKD).[2]

Inheritance of ADTKD is autosomal dominant, as the name implies. Most people with ADTKD have a family history of "kidney disease" (if not a family history of ADTKD specifically) or some of the other symptoms. The diagnosis of ADTKD may be suspected based on family history, symptoms, and laboratory tests, and it can be confirmed by genetic testing.[1][2]

Treatment for kidney disease in people with ADTKD generally follows standard guidelines for chronic kidney disease and may involve kidney transplantation, which cures the disease.[4][5][6] The disease does not recur in the transplanted kidney.[1] Other treatments depend on the symptoms in each person. For example, gout may be treated with allopurinol.[1][2] High meat and seafood intake could worsen gout.[6] Treatment of anemia depends on whether it is causing symptoms.[1] Those with ADTKD-REN are advised to avoid a low-sodium diet and non-steroidal anti-inflammatory drugs.[1][5]

 

 

Description from GARD, https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of genetic kidney diseases that cause progressive loss of kidney function. Signs and symptoms of all forms of ADTKD include slowly worsening kidney disease (often becoming apparent by the teenage years) that ultimately results in end-stage kidney disease at some time between the ages of 20 and 70, depending on the genetic cause and severity. People with ADTKD have an abnormal presence of microscopic particles in the urine (called bland urine sediment), which signifies that a chronic kidney problem is present. Some people with ADTKD have cysts in the center of the kidneys (medullary cysts) that may be seen on an ultrasound.[1]

There are 3 known subtypes of ADTKD, which are classified based on their genetic causes and presence of additional features:[1][2][3]

  • Uromodulin kidney disease (UKD) - caused by a mutation in the UMOD gene. This is the most common subtype and additionally causes gout (a form of arthritis), sometimes as early as the teenage years. The age of onset of kidney disease varies significantly.
  • ADTKD due to REN mutations (ADTKD-REN) - caused by a mutation in the REN gene, which causes an abnormal, toxic form of the protein renin to be made by the kidneys. This subtype additionally causes anemiain childhood (before kidney disease begins), low or low-normal blood pressure, mildly high levels of potassium in the blood (hyperkalemia), and high levels of uric acid in the blood (hyperuricemia). Kidney disease is usually present in childhood.
  • Mucin-1 kidney disease (MKD) - caused by a mutation in the MUC1 gene. This subtype typically does not cause features in addition to chronic kidney disease, although some develop gout in adulthood. The age of onset of kidney disease varies significantly.

In some cases, the genetic cause of ADTKD in a family is not known. People with ADTKD of unknown cause typically do not have features in addition to chronic kidney disease (as is the case for MKD).[2]

Inheritance of ADTKD is autosomal dominant, as the name implies. Most people with ADTKD have a family history of "kidney disease" (if not a family history of ADTKD specifically) or some of the other symptoms. The diagnosis of ADTKD may be suspected based on family history, symptoms, and laboratory tests, and it can be confirmed by genetic testing.[1][2]

Treatment for kidney disease in people with ADTKD generally follows standard guidelines for chronic kidney disease and may involve kidney transplantation, which cures the disease.[4][5][6] The disease does not recur in the transplanted kidney.[1] Other treatments depend on the symptoms in each person. For example, gout may be treated with allopurinol.[1][2] High meat and seafood intake could worsen gout.[6] Treatment of anemia depends on whether it is causing symptoms.[1] Those with ADTKD-REN are advised to avoid a low-sodium diet and non-steroidal anti-inflammatory drugs.[1][5]

This disease has onset at a wide range of ages. It could be beneficial to compare experiences across ages, gender and lived experience.

This disease affects fewer than 60 families in the U.S. 

Synonyms for Autosomal dominant tubulointerstitial kidney disease has not been added yet.
Cause of Autosomal dominant tubulointerstitial kidney disease has not been added yet.

kidney failure

Diagnosis of Autosomal dominant tubulointerstitial kidney disease has not been added yet.
Diagnostic tests of Autosomal dominant tubulointerstitial kidney disease has not been added yet
Treatments of Autosomal dominant tubulointerstitial kidney disease has not been added yet.
Prognosis of Autosomal dominant tubulointerstitial kidney disease has not been added yet.
Tips or Suggestions of Autosomal dominant tubulointerstitial kidney disease has not been added yet.
References of Autosomal dominant tubulointerstitial kidney disease has not been added yet.
Logo

Autosomal dominant tubulointerstitial kidney disease community discussions will be posted here.

There are no new discussions. Start one now!!

Community External News Link
Title Date Link
Community Resources
Title Description Date Link

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

 

Expert Questions

Ask a question

Community User List


Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Logo

Autosomal dominant tubulointerstitial kidney disease community discussions will be posted here.

There are no new discussions. Start one now!!


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.