Renal cysts and diabetes syndrome

Renal cysts and diabetes syndrome (RCAD) is a rare genetic disorder characterized by renal (kidney) cysts, diabetes, and various other abnormalities. The syndrome is caused by mutations in the HNF1B gene.

Symptoms and Signs

The most common symptoms of RCAD include diabetes, renal cysts, and genitourinary tract malformations. Other symptoms may include liver abnormalities, pancreatic atrophy, and abnormal development of the genitalia and reproductive system.

Causes

RCAD is caused by mutations in the HNF1B gene. This gene provides instructions for making a protein that acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. Mutations in the HNF1B gene disrupt the normal function of the protein, leading to the various symptoms of RCAD.

Diagnosis

Diagnosis of RCAD is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include genetic testing, which can detect mutations in the HNF1B gene.

Treatment

Treatment of RCAD is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of specialists, including endocrinologists, nephrologists, urologists, and geneticists.

Prognosis

The long-term outlook (prognosis) for people with RCAD varies. The severity of the condition and the associated symptoms can vary widely from one person to another.

See Also

• Diabetes
• Renal cyst
• HNF1B
• Genetic disorder
• Endocrinology
• Nephrology
• Urology
• Genetics

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