Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome | |
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Other names | MODY 5 |
MODY 5 is inherited in an autosomal dominant manner. |
Renal cysts and diabetes syndrome (RCAD), also known as MODY 5 or HNF1B-MODY, is a form of
Presentation
HNF1β-related MODY is one of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of
The degree of insulin deficiency is variable. Diabetes can develop from infancy through middle adult life, and some family members who carry the gene remain free of diabetes into later adult life. Most of those who develop diabetes show atrophy of the entire pancreas, with mild or subclinical deficiency of exocrine as well as endocrine function.[citation needed]
The non-pancreatic manifestations are even more variable. Kidney and genitourinary
With or without kidney disease, some people with forms of HNF1β have had various minor or major anomalies of the reproductive system. Male defects have included
Causes
Renal cysts and diabetes syndrome is caused by mutations in or deletions of the HNF1B gene. These can be intragenic HNF1B mutations or affect other genes as well, such as in 17q12 microdeletion syndrome.
Diagnosis
Genetic Testing for mutations on the HNF1B gene can indicate MODY 5. The presence of familiar and individual renal problems as well as diabetes mellitus with absence of Type 1 and LADA antibodies in young individuals with a healthy lifestyle can lead to testing.
Management
Treatment is dependent on the phenotype. Hyperglycaemia can be treated with insulin, oral medication or, according to newest data, with GLP-1 analogs. Sulfonylurea has been described as ineffective. Pancreatic exocrine insufficiency is treated with pancreatic enzymes such as Kreon. Some patients take magnesium supplementation or intravenous infusions. Patients with both kidney failure and diabetes can request a simultaneous pancreas and kidney transplant.
References
- PMID 15496559.