-
Views
-
Cite
Cite
Banu Küçükemre Aydın, Feyza Darendeliler, Letter to the Editor: Recent Advances in Genetic Testing and Treatment of Neonatal Diabetes Mellitus, The Journal of Clinical Endocrinology & Metabolism, Volume 100, Issue 1, 1 January 2015, Page L13, https://doi.org/10.1210/jc.2014-3808
Close - Share Icon Share
Extract
Dear Sir: We read with great interest the original article entitled “Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons” by Carmody et al (1) in the JCEM. Carmody et al have reported the risks and benefits of initiating sulfonylurea therapy before genetic testing results become available in their observational retrospective study of 154 patients who were diagnosed with diabetes before 6 months of age. They proposed an algorithm for the empiric sulfonylurea treatment and concluded that sulfonylurea therapy appears to be safe and is often successful in neonatal diabetes mellitus (NDM) patients before genetic testing results are available. They stated that obtaining a genetic diagnosis remains imperative to inform long-term management and prognosis of those patients. But there is a very fast improvement in diagnosis of NDM recently. Today, next-generation sequencing allows detection of single-nucleotide changes through the whole genome and brings the possibility of simultaneous testing for all known NDM genes in a single assay at a lower cost (2–4). Some major research labs are offering comprehensive and very rapid testing of all NDM subtypes that can alter the treatment free of charge (3). Reaching an early molecular diagnosis confirms the genetic subtype, predicts the prognosis and possible development of extrapancreatic features, and sometimes alters the natural course of the disease (4). Transient NDM patients with KATP channel mutations could be treated with low-dose sulfonylurea effectively, but if the molecular diagnosis is compatible with developmental delay-epilepsy-neonatal diabetes (DEND) syndrome, high-dose sulfonylurea therapy should be used to prevent the development of neurological symptoms (4, 5). Early bone marrow transplantation in patients with FOXP3 mutation (immune dysregulation, polyendocrinopathy, enteropathy, X-linked [IPEX] syndrome) leads to the best outcome because the organs are yet to be damaged from autoimmunity and the adverse effects of therapy (6). In conclusion, with the recent advances in genetic studies, results of the molecular analyses will dictate the therapy in NDM patients in the near future.
