A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes

Patouni, Konstantina; Cinek, Ondřej; Průhová, Štěpánka; Elblova, Lenka; Xatzipsalti, Maria; Sertedaki, Amalia; Vazeou, Andriani

doi:10.1016/j.ejmg.2021.104264

Cited by 7 publications

(2 citation statements)

References 33 publications

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“…Often, these genes cluster in shared pathways, compounding the effect of multiple genes that individually would not result in significant disease ( 16 ). Examples include a case of digenic MODY with variants in HNF1A and HNF1B ( 17 ) or severe insulin resistance due to heterozygous variants in the PPARG and PPP1R3A genes ( 18 ). In other cases, additional genetic variation can explain variable or incomplete penetrance of the diabetes phenotype ( 19 ).…”

Section: Atypical Diabetesmentioning

confidence: 99%

Atypical Diabetes: What Have We Learned and What Does the Future Hold?

Stone,

Balasubramanyam,

Posey

2024

Diabetes Care

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As our understanding of the pathophysiology of diabetes evolves, we increasingly recognize that many patients may have a form of diabetes that does not neatly fit with a diagnosis of either type 1 or type 2 diabetes. The discovery and description of these forms of “atypical diabetes” have led to major contributions to our collective understanding of the basic biology that drives insulin secretion, insulin resistance, and islet autoimmunity. These discoveries now pave the way to a better classification of diabetes based on distinct endotypes. In this review, we highlight the key biological and clinical insights that can be gained from studying known forms of atypical diabetes. Additionally, we provide a framework for identification of patients with atypical diabetes based on their clinical, metabolic, and molecular features. Helpful clinical and genetic resources for evaluating patients suspected of having atypical diabetes are provided. Therefore, appreciating the various endotypes associated with atypical diabetes will enhance diagnostic accuracy and facilitate targeted treatment decisions.

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Section: Atypical Diabetesmentioning

confidence: 99%

Atypical Diabetes: What Have We Learned and What Does the Future Hold?

Stone,

Balasubramanyam,

Posey

2024

Diabetes Care

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“…[1] A defining feature of this condition is the presence of cortical microcysts, which manifest as cystic dilatation of Bowman spaces. GCKD exhibits associations with various inherited diseases, including autosomal dominant polycystic kidney disease, [2] tuberous sclerosis complex, [3] medullary cystic kidney disease, [4] nephronophthisis, [5] Down syndrome, [6] and maturity-onset diabetes of the young, [7,8] among others. In this report, we present a young case characterized by deteriorating renal function and a recent diagnosis of diabetes mellitus, ultimately leading to the identification of GCKD through renal pathology.…”

Section: Introductionmentioning

confidence: 99%

Presentation of glomerulocystic disease in a young onset diabetes: A case report

Huang,

Tu,

Chen

et al. 2024

Medicine

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Rationale: This case report presents a challenging medical scenario involving a young adult male who exhibited an unusual combination of symptoms, including abrupt weight loss, declining renal function, proteinuria, and concurrent onset of diabetes mellitus. Remarkably, the patient had no previous medical history or family history of similar conditions, necessitating a comprehensive investigation. Patient Concerns: On March 10, 2021, a 25-year-old male sought medical attention due to the aforementioned symptoms. Initial assessments revealed stage 5 chronic kidney disease, with elevated blood urea nitrogen (BUN) and serum creatinine (Cr) levels, as well as significant proteinuria. The only notable physical finding was obesity, and renal ultrasound showed normal-sized kidneys without cysts. Diagnosis: A treatment plan was initiated to stabilize creatinine levels, including medications such as Glimepiride, Glyxambi, Bisoprolol, Amlodipine, and Valsartan. However, despite diligent medication management, proteinuria persisted, prompting further evaluation. A renal biopsy was performed on April 12th, 2023, leading to the diagnosis of glomerulocystic kidney disease with early-stage changes indicative of diabetic nephropathy. Interventions: The patient continues to receive ongoing care and follow-up at our outpatient clinic to optimize therapeutic interventions and elucidate the underlying etiology of this complex clinical scenario. Outcomes: Ongoing investigations and therapeutic interventions are crucial to understand the underlying cause and optimize patient care in this intricate clinical scenario. Lessons: This case underscores the complexity of diagnosing and managing a young adult presenting with concurrent renal dysfunction, proteinuria, and diabetes mellitus in the absence of prior underlying conditions. It highlights the importance of comprehensive evaluation and ongoing care in such challenging cases.

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