Transforming lives: transferring patients with neonatal diabetes from insulin to sulphonylureas

Abstract

Background: Mutations in the KCNJ11 gene encoding Kir6.2 are the most common cause of neonatal diabetes. Although clinically 'insulin dependent' these patients may respond to oral sulphonylureas. Families' experiences of coping with the condition and the impact of transferring from long-term insulin to sulphonylureas have not been explored. Aim: This study aims to increase understanding of having a child with neonatal diabetes caused by a mutation in the KCNJ11 gene. Method: In-depth interviews were conducted with parents of 11 UK patients with KCNJ11 gene mutations during 2004-2005. The patients had a median age of 13 years (range 0.5-57 years). Qualitative methodology was used to gain an in-depth understanding of the experiences from diagnosis of diabetes to present day. Interviews were audiotaped, transcribed and subjected to thematic content analysis. Results: Three key categories were identified: i) difficulties managing diabetes in a baby/young child -highlighting the constant care required and impact on family relationships; ii) recognition and implications of learning difficulties and muscle weakness; iii) impact of transfer from insulin to sulphonylureas -including effect on lifestyle, learning difficulties and glycaemic control. Conclusion: Having a baby with neonatal diabetes is exhausting and places additional strain on families. Mothers acknowledged feeling overprotective. Before genetic diagnosis learning delay and diabetes had not been related, but had implications for future independent living. Transfer to sulphonylureas greatly improved diabetes control and reduced incidences of hypoglycaemia; this enabled families to normalise the condition and reduced social stigma. Sulphonylurea treatment transformed quality of life for the children and their families, who were able to view the future more positively.Eur Diabetes Nursing 2006; 3(3): 137-142.

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

“…The overarching rationale for MODY testing is that some MODY subtypes ( HNF1A, HNF4A, KCNJ11 , and ABCC8 ) may be manageable with oral hypoglycemic agents (sulphonylureas), allowing discontinuation of insulin . This is cost‐effective, improves metabolic control with less hypoglycemia, and, most importantly, dramatically improves quality of life . In particular, a diagnosis of the GCK subtype leads to lifelong cessation of unnecessary insulin treatment …”

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

“…Some forms of MODY have distinct clinical features (eg, HNF1B ‐MODY is associated with renal malformations, pancreatic atrophy, genital malformations and abnormal liver function tests); however, the majority are clinically indistinguishable without genetic testing. Some subtypes of MODY ( HNF1A , HNF4A , KCNJ11 , and ABCC8 ) can be treated with sulfonylureas, which are more cost‐effective, and improve clinical outcomes when compared to insulin therapy (lower risk of severe hypoglycemia, improved glycemic control, and greater quality of life) . Furthermore, individuals with MODY do not require screening for other autoimmune conditions associated with type 1 diabetes mellitus (T1DM).…”

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

“…Most patients with activating Kir6.2 mutations respond to treatment with high-dose sulphonylureas [11]. Transfer from insulin to sulphonylurea tablets for these patients not only improves quality of life but improves glycaemic control [11,12].…”