Clinical Guidance
Individuals with HNF1B-associated kidney disease (including the 17q12 recurrent deletion) who develop end-stage kidney disease (ESKD) and require kidney transplantation are at increased risk for developing post-transplant diabetes mellitus; therefore, use of an immunosuppressive regimen that avoids tacrolimus and mammalian target of rapamycin (mTOR) inhibitors and reduces corticosteroid exposure may be beneficial, including for those who do not have preexisting diabetes . Nephrotoxic drugs (e.g., nonsteroidal anti-inflammatory drugs) should be avoided by those with kidney abnormalities. Hepatotoxic medications and alcohol should be avoided by those with liver abnormalities. For individuals with mental health conditions such as autism spectrum disorder, schizophrenia, or bipolar disorder, the authors recommend caution when considering the use of antipsychotic agents that may lead to weight gain and increased risk of metabolic syndrome and diabetes mellitus, since individuals with 17q12 deletions are already at increased risk for diabetes mellitus. Likewise, the use of mood stabilizers that can affect kidney function in the long term, such as lithium, should be carefully considered in the setting of potential underlying anatomic and functional abnormalities in individuals with 17q12 deletions.
Source: GeneReviews — "17q12 Recurrent Deletion Syndrome"
