hrp0097p1-472 | Fat, Metabolism and Obesity | ESPE2023

First Case of Familial Partial Lipodystrophy Type 2 (FPLD2) from Kazakhstan Presenting with Life Threatening Arrhythmias and Dilated Cardiomyopathy

Nurbekova Akmaral , Ten Svetlana , Bhangoo Amrit

Background: Familial partial lipodystrophy type 2 (FPLD2) is a heterogeneous rare disease characterized by selective fat loss, mainly affecting the limbs. It is attributed to LMNA gene, which encodes lamins A and C, structural proteins components of the nuclear lamina. LMNA variants have been previously described with cardiac abnormalities with and without lipodystrophy in FPLD2.Case description: We describe a 1...

hrp0089p2-p062 | Diabetes & Insulin P2 | ESPE2018

Prevalence of Diabetes Type 1 and Type 2 in Children and Adults in Kazakhstan in 2016

Nurbekova Akmaral , Balmuchanova Aigul , Ten Svetlana , Bhangoo Amrit

Introduction: The prevalence of diabetes for all age-groups worldwide was estimated to be 28/1000 in 2000 and 44/1000 in 2030 (1). In the SEARCH study in a population of 3,458,974 US youth less than 20 yrs the prevalence of T1D was 1.93/1,000 and type 2 diabetes 0.24/1,000 (2).Methods: We reviewed data on already diagnosed patients with type 1 and type 2 diabetes from official statistical collection of Ministry of Health of Kazakhstan in 2016 (3).<p ...

hrp0089p3-p075 | Diabetes &amp; Insulin P3 | ESPE2018

First Four Cases of Neonatal Diabetes from Kazakhstan, Almaty with Proven Mutations in KCNJ11 and INS Genes

Nurbekova Akmaral , Hattersley Andrew , Ten Svetlana , Bhangoo Amrit

We report three cases of neonatal diabetes from Kazakhstan, Almaty with the KCNJ11 gene mutation who were successfully switched from insulin to sulphonylurea treatment and 1 case of insulin (INS) gene mutation that presented as permanent insulin dependent neonatal diabetes.Case 1: An 1 month old girl presented with elevated glucose level, dehydation, ketoacidosis and was treated with Insulin. HbA1c at diagnosis was 10%. Heterozygous missense mut...

hrp0089p3-p076 | Diabetes &amp; Insulin P3 | ESPE2018

First 2 Cases of Monogenic Diabetes (MODY) from Kazakhstan, Almaty with Proven Heterozygous Mutation in Hepatocyte Nuclear Factor 1-Alpha (HNF1A) Gene

Nurbekova Akmaral , Hattersley Andrew , Ten Svetlana , Bhangoo Amrit

Background: It is important to make correct diagnosis of monogenic diabetes or MODY in children. Most of the patients are misdiagnosed with diabetes type 1 or type 2 and undergo unnecessary treatment with insulin or oral medications. We report first 1 case of MODY with heterozygous mutation in HNF1A gene when Insulin treatment was changed to sulphonylurea treatment and 1 case of compound heterozygote of glucokinase (GCK) gene and HNF1A gene mutations.Cas...

hrp0095p2-59 | Diabetes and Insulin | ESPE2022

First case of Diabetes Mellitus Caused by compound heterozygous changes in the WFS1 and PTF1A Genes from Kazakhstan

Aralbayeva Dariga , Bolatbek Kassiyet , Berikkan Aigerim , Ten Svetlana , Bhangoo Amrit , Nurbekova Akmaral

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...