Renal cysts and diabetes syndrome (RCAD) refers to a rare type of diabetes that typically affects younger people. It occurs due to a gene change and can result in diabetes symptoms and the development of kidney problems.
This condition belongs to a rare group of inherited types of diabetes known as maturity onset diabetes of the young (MODY). The condition, also known as MODY 5, occurs due to a gene alteration that results in renal cysts and affects insulin production. This hormone helps maintain blood glucose levels. When the body is unable to produce sufficient insulin, this can result in high blood sugar, which may lead to health complications.
In this article, we discuss renal cysts and diabetes syndrome, including its causes, symptoms, and treatments.
Health experts may also refer to RCAD as
The prevalence of MODY is roughly
Health experts may refer to all types of MODY as
Typically, MODY occurs due to inheriting an altered gene from a parent. If a person inherits this genetic change, they will usually develop MODY before the age of 25 years, regardless of their weight, lifestyle, and racial and ethnic background. However, MODY 5 can arise from new mutations in a gene and occur in people with no family history of MODY.
In people with RCAD, the condition develops due to a mutation in the hepatic nuclear factor 1B gene, also known as the HNF1B gene. This gene is responsible for producing proteins that act as transcription factors, helping control the activity of other genes. In particular, HNF1B helps regulate genes that play a role in the development of beta cells and the kidneys.
Beta cells are a type of special cell present in the pancreas that secretes insulin. Due to the genetic change, the HNF1B gene produces an altered transcription factor that is unable to function correctly. This results in the beta cells being less able to produce sufficient levels of insulin to help control blood sugar levels.
The HNF1B gene also plays a role in the development of other body systems, including the kidneys. The variation in the proteins that the gene produces can increase the risk of renal problems, such as the development of fluid-filled sacs known as cysts.
Individuals with RCAD may experience mild symptoms of diabetes. These can include:
In addition to diabetes symptoms, RCAD often affects other organs and manifests with extra-pancreatic symptoms. As the name suggests, these usually include structural changes to the kidneys that can affect their function and increase the risk of kidney conditions.
A person will also likely present with the following clinical features:
Initially, a person may present with symptoms that suggest diabetes. A doctor will ask questions about the person’s symptoms and family history before performing a blood sugar test to confirm high blood sugar levels. They will then request additional tests, such as an autoantibody test, to help determine the type of diabetes.
Depending on these results, the doctor may suggest genetic testing, which is the
- has a diabetes diagnosis before the age of 25 years
- has a family history of diabetes
- can produce insulin
- has a C-peptide level in the normal range
- has a negative result for beta-cell autoantibodies
If the test identifies a mutation in the HNF1B gene, this result confirms a diagnosis of MODY 5.
Unlike other types of MODY, evidence suggests that individuals with RCAD often present with some level of insulin resistance. As such, common treatment options for MODY, such as sulfonylureas, are inefficient.
If an individual or child has symptoms of diabetes, it is advisable to consult a healthcare professional. An endocrinologist can help diagnose diabetes and determine the type.
In some cases, they may
Renal cysts and diabetes syndrome is a rare subtype of diabetes. It belongs to a group of conditions known as maturity onset diabetes of the young. It occurs due to an alteration in the HNF1B gene. This gene has a role in the development of beta cells and the kidneys. The gene mutation affects the production of insulin and the structure of the kidneys, which increases the risk of cysts.
Genetic testing is necessary to confirm a variation in the HNF1B gene and diagnose RCAD. Treatment for the condition typically involves insulin therapy and following a dietary regimen to help control blood sugars.