HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
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By
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Tânia Carvalho
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Mariana Lavrador
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Joana Saraiva
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Leonor Gomes
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June 11, 2026
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Clinical Scorecard: HNF1B-MODY (MODY-5): An Uncommon Diabetes Variant with Systemic Manifestations – Two Clinical Case Studies
At a Glance
| Category | Detail |
|---|
| Condition | |
| Key Mechanisms | Caused by mutations in the HNF1B gene, affecting renal, pancreatic, and genitourinary development. |
| Target Population | |
| Care Setting | |
Key Highlights
- MODY-5 accounts for <5% of MODY cases and presents with renal abnormalities.
- Patients often have hypomagnesemia and abnormal liver function tests.
- Early genetic confirmation is essential for tailored management.
Guideline-Based Recommendations
Diagnosis
- Consider HNF1B mutations in young-onset diabetes with renal/genitourinary anomalies.
Management
- Metformin is effective for metabolic control in some patients.
Monitoring & Follow-up
- Surveillance for complications such as microalbuminuria and renal function.
Risks
- Potential for renal cysts, cognitive impairment, and infertility.
Patient & Prescribing Data
Patients with HNF1B-related MODY confirmed by genetic testing.
Treatment may include metformin, insulin, and other agents based on individual needs.
Clinical Best Practices
- Maintain a high index of suspicion for MODY in young patients with diabetes.
- Conduct thorough family history assessments for diabetes.
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