Maturity onset diabetes of the young (MODY) is the most common form of monogenic diabetes and is currently believed to have 14 subtypes. While much is known about the common subtypes of MODY (MODY-1, 2, 3 and 5) little is known about its rare subtypes (MODY4, 6-14). With the advent of next-generation sequencing (NGS) there are several reports of the rarer subtypes of MODY emerging from across the world. Therefore, a greater understanding on these rarer subtypes is needed. A search strategy was created, and common databases were searched, and 51 articles finally selected. INS-(MODY10) and ABCC8-(MODY12) mutations were reported in relatively large numbers compared to the other rare subtypes. The clinical characteristics of the rare MODY subtypes exhibited heterogeneity between families reported with the same mutation. Obesity and diabetic ketoacidosis (DKA) were also reported among rarer MODY subtypes which presents as a challenge as these are not part of the original description of MODY by Tattersal and Fajans. The treatment modalities of the rarer subtypes included oral drugs, predominantly sulfonylureas, insulin but also diet alone. Newer drugs like DPP-4 and SGLT2 inhibitors have also been tried as new modes of treatment. The microvascular and macrovascular complications among the patients with various MODY subtypes are less commonly reported. Recently, there is a view that not all the 14 forms of 'MODY' are true MODY and the very existence of some of these rarer subtypes as MODY has been questioned. This scoping review aims to report on the clinical characteristics, treatment and complications of the rarer MODY subtypes published in the literature.
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http://dx.doi.org/10.1016/j.jdiacomp.2020.107640 | DOI Listing |
Int J Cardiol Congenit Heart Dis
June 2023
Green Lane Cardiovascular Research Unit, Auckland City Hospital, Te Whatu Ora - Health New Zealand, Te Toka Tumai | Auckland, Auckland, New Zealand.
Right ventricular outflow tract ventricular tachycardia (RVOT VT) is a well-recognised subtype of idiopathic ventricular tachyarrhythmia and often described in young healthy individuals. This arrhythmia typically occurs in patients with a structurally normal heart, and in this context is generally considered benign. In this case we present a rare association between RVOT VT and a ruptured sinus of Valsalva aneurysm in a patient known to have a restrictive ventricular septal defect.
View Article and Find Full Text PDFNihon Shokakibyo Gakkai Zasshi
December 2024
Department of Gastroenterology, Fukushima Medical University School of Medicine.
Already a rare presentation in patients with systemic mastocytosis (SM), chronic diarrhea is even rarer in those with mast cell leukemia (MCL), a subtype of SM. We present a case to illustrate the utility of lower gastrointestinal endoscopy with histological examination in the diagnosis of MCL in a patient with chronic diarrhea. A woman in her 70s presented with persistent diarrhea.
View Article and Find Full Text PDFEpigenomics
December 2024
Protein Engineering lab, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, India.
Molecules
November 2024
Department of Histology and Embryology, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, 85-067 Bydgoszcz, Poland.
Cureus
November 2024
Surgical Oncology, All India Institute of Medical Sciences, Patna, Patna, IND.
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