ESPE2023 Poster Category 2 Late Breaking (77 abstracts)
Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study
Huseyin Demirbilek 1 , M Nuri Ozbek 2 , Melek Yıldız 3 , Jayne LA Houghton 4 , Hasan Onal 5 , Fatih Gurbuz 6 , Semra Cetinkaya 7 , Atilla Cayir 8 , Yasemin Denkboy-Ongen 9 , Mesut Parlak 10 , Busra Gurpınar Tosun 11 , Ibrahim Mert Erbas 12 , Aysehan Akinci 13,14 , Deniz Okdemir 15 , Ahmet Anik 16 , Gul Direk-Trabzon 17 , Sezer Acar 18 , Ruken Yildirim 19 , Eda Celebi-Bitkin 20 , Hande Turan 21 , Murat Aydin 22 , Mehmet Keskin 23 , Suna Kilinc 24 , Yusuf Curek 25 , Ihsan Turan 26 , Eda Mengen 27 , Sevinc Odabas 28 , Onur Akin 29 , Servan Ozalkak 30 , Dogus Vuralli 1 , Ilknur Atalay 7 , Ahmet Uçar 31 , Bilgin Yuksel 6 , Sian Ellard 4 , Khalid Hussain 32 & Sarah E Flanagan 4
1Hacettepe University, Ankara, Turkey. 2Mardin Artuklu University, Mardin, Turkey. 3Istanbul University, Istanbul Faculty of Medicine, İstanbul, Turkey. 4University of Exeter, Exeter, United Kingdom. 5Cam Sakura City Hospital, İstanbul, Turkey. 6Cukurova University, Adana, Turkey. 7Sami Ulus Training and Research Hospital, Ankara, Turkey. 8University of Health Science, Erzurum, Turkey. 9Uludag University, Bursa, Turkey. 10Akdeniz University, Antalya, Turkey. 11Marmara University, İstanbul, Turkey. 12Dokuz Eylul University, Izmir, Turkey. 13Malatya İnönü University, Malatya, Turkey. 14Baskent University, Ankara, Turkey. 15Fırat University, Elazıg, Turkey. 16Adnan Menderes University, Aydin, Turkey. 17Erciyes University, Kayseri, Turkey. 18Tepecik Training and Research Hospital, Izmir, Turkey. 19Diyarbakir Children State Hospital, Diyarbakir, Turkey. 20Yuzuncu Yil University, Van, Turkey. 21İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey. 22Ondokuz Mayis University, Samsun, Turkey. 23Gaziantep University, Gaziantep, Turkey. 24Bagcilar Training and Research Hospital, İstanbul, Turkey. 25Antalya Training and Research Hospital, Antalya, Turkey. 26Sanliurfa Children Hospital, Sanliurfa, Turkey. 27Ankara City Hospital, Ankara, Turkey. 28Gulhane Training and Research HospitalTraining and Research Hospital, Ankara, Turkey. 29Gulhane Training and Research Hospital, Ankara, Turkey. 30Gazi Yasargil Training and Research Hospital, Diyarbakir, Turkey. 31Sisli Etfal Training and Research Hospital, İstanbul, Turkey. 32Sidra Medical Centre, Doha, Qatar
Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.
Patients and method: This is a nationwide crossectional multicentre retrospective study. Data was collected using a proforma through a web-based data collection tool, CEED-NET for Pediatric Endocrinology. Clinical characteristics, presenting complaints, biochemical features, molecular genetic analysis, treatment strategies, and long-term follow-up outcomes for patients with CHI were collected.
Results: In total 364 patients (female:175), were recruited from tertiary pediatric endocrine centers from around the country. Mutation analysis results were available for 193 patients with a mutation catch-up rate of 91.7%. Mutations in ABCC8 gene(n=120; 62.1%) account for the vast majority of whole mutations which was followed by HADH(n=25; 12.9%), KCNJ11(n=18;9.3%) and GLUD1 gene mutations(n=6;3.1%). Heterozygous mutation in GCK gene(n=3), KMT2D gene(n=1), BWS(n=2), and chromosome 9p deletion syndrome account for the rest of the underlying genetics etiology. The median age of presentation was 2 weeks (Ranges:1 day to 16 years) which did not differ among patients with a KATP channel gene mutation and mutation-negative group(P=0.168). However, the median age of the first presentation was younger in patients with KATP channel gene mutations compared to other gene mutations (1 week vs 8 weeks; P<0.001). Besides, patients with KATP channel gene mutations had a statistically significant higher BW (<0.001). The rate of detection of a mutation was higher in diazoxide-unresponsive cases compared to those of the diazoxide-responsive group(P<0.001).
Conclusion: Recessive mutations in either of the KATP channel genes (ABCC8 and KCNJ11) or HADH genes account for more than 90% of the underlying genetic aetiology of CHI in our large nationwide cohort. In line with recent literature data, our results showed that higher BW and diazoxide unresponsiveness have predictive values in detecting KATP channel gene mutations. In addition, our data suggested that in patients presented later in life detection of non-KATP channel gene mutations might be more likely. The high catch-up rate for detection(92%) of a mutation was attributed to the high rate of consanguinity, and limited sources for genetics analysis thereby performing analysis in selected cases.
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