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.
kidney failure
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