On September 6, 2023, Sister Grace Miriam Usala, MS, MD; Alberto Sobrero, BSc; Amy Riek, MD; Janet B. McGill, MD, MA, FACE, FACP and Fumihiko Urano, MD, PhD had their clinical case report titled “Cystic and Atrophic Kidneys, Atrophic Pancreas, Arcuate Uterus, and Diabetes Mellitus Associated With Deletion of HNF1β Gene,” published in AACE Clinical Case Reports.
In the case study, a 33-year-old female, referred for diabetes management, presented with end-stage kidney disease. The patient shared that she had no recollection of diabetes or renal disease in her family history. Her kidney disease history included “progressive loss of kidney function as an adolescent and young adult, with pretransplant imaging at the age of 25 years showing bilateral renal cysts and markedly atrophic left kidney.”
In their analysis, the authors conclude that the diagnosis is a HNF1β-associated disease, “also known as maturity-onset diabetes of the young (MODY) type 5 and Renal Cysts and Diabetes Syndrome.”
Further, they state that the case “highlights the importance of suspecting MODY, and specifically HNF1β defects, when patients present with this constellation of findings.” As therapeutic strategies, transplant counseling and routine health maintenance screenings are different for each genetic mutation and mechanism of disease, it is essential to establish the diagnosis of MODY.
Rachel L. Usala, Alberto Sobrero, Amy Riek, Janet McGill, Fumihiko Urano. Cystic and Atrophic Kidneys, Atrophic Pancreas, Arcuate Uterus, and Diabetes Mellitus Associated With Deletion of HNF1β Gene. AACE Clinical Case Reports. 2023. ISSN 2376-0605. https://doi.org/10.1016/j.aace.2023.06.003