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November 2020 -
Volume 18, Issue 11

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From the Editor

Editorial
A. Abyad (Chief Editor)
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Original Contribution

Perceptions of Patient Safety Culture among Physicians and Nurses in a Tertiary Hospital in Southwestern Saudi Arabia
[Abstract]
[pdf]
Abdullah A. Alsabaani
DOI: 10.5742/MEWFM.2020.93884

Awareness, Knowledge and Practice of Adult Saudi Females about Cervical Cancer Screening, in Aseer Region, Saudi Arabia
[Abstract]
[pdf]
Mehad H. Al-Qasem, Osma Badar, Anwar M. Abokathiyah
DOI: 10.5742/MEWFM.2020.93885

Public awareness and attitude of the population of Al-Madinah Al-Munawwarah regarding the effects of sunlight and food on vitamin D homeostasis: A cross-sectional study
[Abstract]
[pdf]
Sultan S. Al Thagfan, Saleh A. Bahashwan, Ahmed M. AlJohani, Mohammed W. Azuny,
Eyad A. Domlo, Mohammad Y. Manqu, Salem S. Alhubayshi, Khaled Faisal Alhejail,
Salah M. El Sayed
DOI: 10.5742/MEWFM.2020.93886

Appendectomy as a risk factor for ectopic pregnancy in Taif city
[Abstract]
[pdf]
FarZana R. Arain, Lura A. Habib, Hadeel A. Alharthi, Tasneem H. Elsayed, Dhuha A. Alhumaidi, Lujain A. AlHarthi, Mai S. Althobaiti
DOI: 10.5742/MEWFM.2020.93887

Epidemiology of Hepatitis B in Salahaldeen
[Abstract]
[pdf]
Layla A. Hameed, Sarab Kahtan Abedalrahman, Marwah Imad Al Ameen
DOI: 10.5742/MEWFM.2020.93888

Attitude and Awareness Toward Heart Attack Symptoms and Lifesaving Actions Among Population of Western Region, KSA
[Abstract]
[pdf]
Ali M. Alabdali, Hessa A. Alshahrani, Athar I. Alqurashi, Maryam A. Alzaylaee, Rawan A. Althobaiti, Thekra I. Alsalmi
DOI: 10.5742/MEWFM.2020.93890

Risk Factors of Cervical Epithelial Cell Abnormality in Baghdad
[Abstract]
[pdf]
Asan Ali Qasim Al Niyazee, Ilham Majeed Abdulaaima, Luma Abdulrazzaq Mohammed Saleh, Sarab Kahtan Abedalrahman
DOI: 10.5742/MEWFM.2020.93889

Population and Community Studies

Patterns of Contact Lenses Use among female Students at Health Colleges of King Khalid University at Abha, KSA
[Abstract]
[pdf]
Safar Abadi Alsaleem, Dina Abdullah S. Asiri, Shatha Mahdi A alamry, Amani Hashem AbuHassan, Nouf Saad S Al-Shahrani, Norah Saad Alkahtani, Mohammed Abadi Alsaleem,
Awad S. Alsamghan
DOI: 10.5742/MEWFM.2020.93891

Factors associated with failure of exclusive breastfeeding among mothers of twins in Saudi Arabia
[Abstract]
[pdf]
Malak Mohammad Allihaibi
DOI: 10.5742/MEWFM.2020.93892

Monogenic diabetes: importance of genetic testing
[Abstract]
[pdf]
Rubena Ali Malik, Sabana Shaikh
DOI: 10.5742/MEWFM.2020.93893

Clinical Audit Report as preliminary step for Quality Improvement Project on Prescribing Proton Pump Inhibitors for appropriate indications in West Bay Health Center
[Abstract]
[pdf]
Samar Soliman, Mohamed Salem, Eman Mohamed, Sharief Khan, Abdul-Ali Shah, Wafaa Yousuf
DOI: 10.5742/MEWFM.2020.93894

Prevalence and association between sleep, stress, and physical activity among medical students in southern region, Saudi Arabia
[Abstract]
[pdf]
Shehata Farag Shehata, Mohammed Saad Alshahrani, Mohammed Saad Aldarami, Faisal Ali Asiri, Hashem Abdullah Alghamdi
DOI: 10.5742/MEWFM.2020.93895

Prevalence of fibromyalgia syndrome in chronic urticaria
[Abstract]
[pdf]
Abdulsatar J. Mathkhor, Jinan Q. Mohammed
DOI: 10.5742/MEWFM.2020.93897

Virtual Pain Management Clinic during COVID-19 pandemic: Experience from Qatar
[Abstract]
[pdf]
Khalid Ahmed, Hani Abdalla, Siddig Abdalla, Mouhand FM Mohamed, Yasir Hassan
DOI: 10.5742/MEWFM.2020.93898

Clinical Research and Methods

Telemedicine difficulties for Family Physicians in dermatological cases
[Abstract]
[pdf]
Zeeshan Najam Khan
DOI: 10.5742/MEWFM.2020.93899

Case Report

Early Diagnosis of an Ectopic Pregnancy in patient with Irregular Menstrual Bleeding
[Abstract]
[pdf]
Samar Soliman, Mohammed Salem
DOI: 10.5742/MEWFM.2020.93900


Middle East Quality Improvement Program
(MEQUIP QI&CPD)

Chief Editor -
Abdulrazak Abyad MD, MPH, MBA, AGSF, AFCHSE
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Editorial Office -
Abyad Medical Center & Middle East Longevity Institute
Azmi Street, Abdo Center,
PO BOX 618
Tripoli, Lebanon
Phone: (961) 6-443684
Fax:     (961) 6-443685
Email: aabyad@cyberia.net.lb
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Publisher -
Lesley Pocock
medi+WORLD International
AUSTRALIA
Email: lesleypocock@mediworld.com.au
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Editorial Enquiries -
abyad@cyberia.net.lb
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Advertising Enquiries -
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While all efforts have been made to ensure the accuracy of the information in this journal, opinions expressed are those of the authors and do not necessarily reflect the views of The Publishers, Editor or the Editorial Board. The publishers, Editor and Editorial Board cannot be held responsible for errors or any consequences arising from the use of information contained in this journal; or the views and opinions expressed. Publication of any advertisements does not constitute any endorsement by the Publishers and Editors of the product advertised.

The contents of this journal are copyright. Apart from any fair dealing for purposes of private study, research, criticism or review, as permitted under the Australian Copyright Act, no part of this program may be reproduced without the permission of the publisher.
November 2020 - Volume 18, Issue 11

Monogenic diabetes: importance of genetic testing

Rubena Ali Malik
Sabana Shaikh

Family Medicine Consultant, Primary Health Care Corporation, Qatar

Correspondence:
Dr. Rubena Ali MalikDr. Sabana Shaikh
Email: rmalik@phcc.gov.qa, sabanashaikh1234@gmail.com

Received: September 2020; Accepted:October 2020; Published: November 1, 2020. Citation: Rubena Ali Malik, Sabana Shaikh. Monogenic diabetes: importance of genetic testing. World Family Medicine. 2020; 18(10): 78-86 DOI: 10.5742/MEWFM.2020.93893

Abstract

There are various forms of monogenic diabetes and these include neonatal diabetes mellitus, maturity-onset diabetes of the young (MODY), mitochondrial diabetes, and rare diabetes-associated syndromic diseases. Single gene forms of diabetes represent an uncommon heterogeneous group of conditions mainly characterized by functional defects of pancreatic beta cells with consequential moderate to severe hyperglycemia.

The body of the article will focus mainly on MODY. The classic presentation of MODY includes non-ketotic noninsulin-dependent diabetes with diagnosis before the age of 25 and with an affected parent. According to various studies, there is a substantial number of individuals with a confirmed genetic diagnosis of MODY that does not fit the classic clinical description and approximately > 80% of MODY cases are not diagnosed by molecular testing. Mutations in GCK, HNF1A, and HNF4A are the most common causes of MODY.

Differences in screening recommendations for diabetes varies across countries, but the reported prevalence of these causes in young people collectively accounts for almost 85–90% of all MODY cases. Incidence has increased in recent years due to greater understanding and wider accessibility of genetic testing. Unfortunately, there are no statistics on the incidence of monogenic diabetes in Saudi Arabia or other Middle Eastern countries, compared to their Western counterparts.


Diagnosis includes the use of a probability calculator and then genetic testing. There is much debate on availability and cost effectiveness of genetic testing. Accurate genetic diagnosis impacts treatment in the most common types of monogenic diabetes, including the use of sulfonylureas in place of insulin or other glucose-lowering agents, or discontinuing pharmacologic treatment altogether. However, it allows for precision medicine which in turn saves money, gives better quality of life to patients and postpones onset of diabetic complications.

There are plenty of advantages to genetic testing considering the increasing incidence of diabetes in young people and how the wrong type of treatment can cause physical and psychological impact.

Key words: monogenic diabetes,
maturity onset diabetes of the young (MODY),
mitochondrial diabetes,
diabetes-associated syndromic diseases







 


 
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