Neonatal Diabetes - Same disease, same gene, different outcomes.

We present 2 case reports of patients that, despite having the same presenting condition and being later found to have the same mutated gene, had significantly different outcomes. While one illustrates the importance of genetic testing on therapeutic choices, the other shows the test's limitation when it comes to predicting the patients' final outcome - showing that even the most prevalent cause of permanent NDM can cause transient forms of the condition. PMID: 32598018 [PubMed - as supplied by publisher]
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research