A familial clustering of autoimmune and monogenic diabetes
DOI:
https://doi.org/10.15277/bjdvd.2015.034Abstract
Background: Monogenic diabetes type 5 or Renal Cysts And Diabetes (RCAD) is a familial syndrome associated with renal disease and diabetes, caused by mutations in the HNF-1B gene. Early recognition is important to plan appropriate treatment and specialist input.Clinical case: We report the overlapping occurrence of type 1 diabetes and renal disease among different members of the same family. The aetiology of diabetes was auto- immune with strong antibody positivity, whilst the renal disease was caused by a mutation in the hepatocyte nuclear factor (HNF-1B) gene.
Conclusions: A low threshold of clinical suspicion is important to recognise monogenic forms of diabetes at an early stage. Mild renal impairment is usually asymptomatic in the initial phases and, as such, this mutation is likely to be underdiagnosed. An uncertain aetiology with multiple family members being affected at an early age should prompt the clinician to pursue further investigations.
References
Diabetes UK. State of the Nation. England. 2013. Available at https://www.diabetes.org.uk/Documents/About Us/What we say/0160b-state-nation-2013-england-1213.pdf.
Kropff J, Selwood MP, McCarthy MI, et al. Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. Diabetologia 2011;54:1261-3. http://dx.doi.org/10.1007/s00125-011-2090-z
Ledermann HM. Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed? Diabetologia 1995;38:1482. http://dx.doi.org/10.1007/BF00400611
McCarthy, MI, Hattersley, AT. Learning From Molecular Genetics. Novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 2008;57:2889-98. http://dx.doi.org/10.2337/db08-0343
Diabetes Genes, Diabetes Research Department and the Centre for Molecular Genetics, University of Exeter Medical School and Royal Devon and Exeter Hospital, Exeter. Genetic types of diabetes including maturity-onset diabetes of the young (MODY). Available at http://diabetesgenes.org.
Jones AG, Hattersley AT. The clinical utility of C-peptide measurement in the care of patients with diabetes. Diabet Med 2013;30:803-17. http://dx.doi.org/10.1111/dme.12159
Grant, P, Velusamy A, Turner E, Chakera A. When to suspect 'funny diabetes'. Clin Med 2014;14:663-6. http://dx.doi.org/10.7861/clinmedicine.14-6-663
Faguer S, Decramer S, Chassaing N, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011;80:768-76. http://dx.doi.org/10.1038/ki.2011.225
Bingham C, Ellard S, van't Hoff WG, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 2003;63:1645-51. http://dx.doi.org/10.1046/j.1523-1755.2003.00903.x
Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant 2004;19:2703-8. http://dx.doi.org/10.1093/ndt/gfh348
Edghill EL, Oram RA, Owens M, et al. Hepatocyte nuclear factor-1beta gene deletions–a common cause of renal disease. Nephrol Dial Tansplant 2008;23:627-35. http://dx.doi.org/10.1093/ndt/gfm603
Edghill EL, Stals K, Oram RA, et al. HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med 2013;30:114-17. http://dx.doi.org/10.1111/j.1464-5491.2012.03709.x
Published
Issue
Section
License
Publish & Transfer of Copyright Agreement
For the mutual benefit and protection of the Author and the Journal Owner/Publisher it is necessary that the Author provides formal written Consent to Publish and Transfer of Copyright before publication of the Work.