ESPE Abstracts (2019) 92 P2-79

Clinical Profile and Follow-up Analysis of Neonatal Diabetes Mellitus- Single Centre Experience

Sophy Korula1, Praveen George Paul1, Aaron Chapla2, Sarah Mathai1, Anna Simon1

1Paediatric endocrinology and metabolism unit, Christian Medical College and Hospital, Vellore, India. 2Molecular Endocrinology Laboratory, Department of Endocrinology, Diabetes and metabolism, Christian Meical College and Hospital, Vellore, India

Aim: To study the clinical profile of Neonatal Diabetes Mellitus (NDM) at our centre

Objectives: 1. To study follow-up data on growth, glycemic control

2. To review genetic analysis

Introduction: NDM is rare and occurs at a frequency of 1:1,00,000. There is scarce literature on follow up of these patients although genetic data is well established (1). Developing country has its own challenge in the form of poor referral system, lack of reliable genetic labs as well as financial constraints necessitating SC Insulin injections over CSII by pumps. Our centre has an established genetic endocrine lab and is a referral centre for South India. We thus initiated this study to analyse data of our NDM cohort diagnosed in the last 10 years.

Results: Total of 9 patients had NDM (4 males). Median age at diagnosis was 72 days (14-180) with majority (6/9) being out-born. 7 were born at term gestation, median birth weight of our cohort was 2300 gm (900-2600). All were initiated on Insulin therapy and 2 required intravenous infusion at the outset. All had negative IA2 antibody, although 1 patient had a positive GAD. 1 patient got discharged against advice.

Follow-up data was available for 8 patients. The median follow-up age is 2.3 years (0.8-9.9). 5 are on basal-bolus and 3 on split-mix regime of Insulin with a mean dose of 0.85U/kg/d. The median HbA1c is 8.4 (6.6-9.5) at follow-up.

Growth shows improvement in both weight centile (from 2nd to 11.7th) and height centile (from 6.2nd to 14.7th) at follow-up.

7 underwent genetic testing (6- inhouse and 1- Exeter). 5/7 were born of consanguineous parentage. Mutation analysis was positive in 3/6 (1 each of EIF2AK3, INS, IL 2 RA)-2 of whom had consanguineous parents; negative in 3/6 and results are pending in 1 patient. Thus, our cohort demonstrated a 50% positive rate for genetic mutations and none with the common K-channel mutation. In all of them siblings were unaffected. All 8 patients are alive and 1 with IL2RA is being worked up for HSCT.

Conclusion: Our study demonstrates that there is good chance of survival and improvement in growth with Insulin therapy among patients with NDM. There is 50% genetic mutation positive rate in our cohort. Interestingly 1 patient with IL2RA mutation also had GAD positive status and apart from Insulin therapy will need HSCT.

(1) De Franco E et al. Lancet 2015 Sep 5; 386(9997):957-63

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