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Kalıtsal Metabolik Hastalıklarda Genetik Tanının Önemi: Çukurova Üniversitesi Tıp Fakültesi Balcalı Hastanesi Tanı Dağılımı

Year 2021, , 29 - 32, 16.12.2020
https://doi.org/10.31067/acusaglik.831620

Abstract

Amaç: Kalıtsal metabolik hastalıklar, çok geniş bir hastalık grubu olarak klinik ve genetik heterojenitenin en sık görüldüğü hastalıklardandır. Tek başlarına nadir olmakla birlikte çok sayıda olmaları nedeniyle toplamda toplum sıklığı yüksektir. Bu araştırmada Çukurova Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı verilerinin sınıflandırılarak hastaların tanı dağılımlarının saptanması amaçlanmıştır.
Hastalar ve Yöntem: Çukurova Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı Klinik Genetik Polikliniği’ne doğrudan ve Çocuk Metabolizma Beslenme Bilim Dalı ile Kadın Hastalıkları ve Doğum Anabilim Dalı’ndan yönlendirilerek başvuruda bulunan hastaların kayıtları geriye dönük olarak Klinik Genetik Polikliniği’nin açıldığı Nisan 2013 ile Nisan 2016 tarihleri arası incelenmiştir.
Bulgular: Toplamda 1819 hastaya laboratuvar hizmeti sunulmuş olup, 577 aileye genetik danışmanlık hizmeti verilmiştir. Genetik tanı konma oranının hasta olarak % 31,5 taşıyıcı olarak ise % 20,15 olduğu görülmüştür. Tüm olgular göz önüne alındığında en sık saptanan ilk 3 klinik tanının sırasıyla biotidinaz eksikliği, fenilketonüri ve glikojen depo hastalıkları olduğu, başvuran hastalar içinde en yüksek tanı konma oranının da sırasıyla fenilketonüri, biotinidaz eksikliği ve mukopolisakkaridozlar olduğu görülmüştür. Tablo 1’de ön tanı ve genetik tanı konma yüzdeleri belirtilmiştir. Ayrıca toplam 21 vakada da endikasyona yönelik prenatal genetik tanı testleri yapılmıştır.
Sonuç: Kompleks kliniğe sahip ve genetik olarak heterojen olan kalıtsal metabolik hastalıklar ülkemizin en ciddi toplum sağlığı problemlerindendir. Bu nedenle sık saptanan tanıların bilinmesi, özellikle ülkemizde akraba evliliğinin sık görüldüğü ve geniş bir habitata hizmet veren hastanemiz verileri ışığında belirlenmesi ülke genelinde genetik tanı hizmetlerinin iyileştirilmesine ve hatta yenidoğan tarama programlarının geliştirilmesine katkıda bulunacaktır.

Supporting Institution

Çukurova Üniversitesi Bilimsel Araştırma Projeleri Koordinasyon Birimi

Project Number

(TAY-2016-4020)

Thanks

Projeye verdiği destekten ötürü Çukurova Üniversitesi Bilimsel Araştırma Projeleri Koordinasyon Birimine teşekkür ederiz.

References

  • Hampe MH, Panaskar SN, Yadav AA, Ingale PW. Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. Clin Biochem. 2017;50(3):121-126.
  • 2. Papadopoulou-Legbelou K, Gogou M, Evangeliou A. Cardiac Manifestations in Children with Inborn Errors of Metabolism. Indian Pediatr. 2017;54(8):667-673.
  • 3. Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, ve ark. ClinGen Inborn Errors of Metabolism Working Group. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018;39(11):15691580.
  • 4. Seker Yilmaz B, Mungan NO, Kor D, Bulut D, Seydaoglu G, Öktem M, ve ark. Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. J Pediatr Endocrinol Metab. 2018;31(3):339-343.
  • 5. Löscher WN, Huemer M, Stulnig TM, Simschitz P, Iglseder S, Eggers C, ve ark. Pompe disease in Austria: clinical, genetic and epidemiological aspects. J Neurol. 2018;265(1):159-164.
  • 6. Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, ve ark. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders. J Paediatr Child Health. 2017;53(6):585-591.
  • 7. Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, ve ark. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. Ann Lab Med. 2016;36(6):561-72.

The Importance of Genetic Diagnosis for Inherited Metabolic Diseases: Distribution and Experience of Cukurova University Faculty of Medicine Balcali Hospital

Year 2021, , 29 - 32, 16.12.2020
https://doi.org/10.31067/acusaglik.831620

Abstract

Purpose:Hereditary metabolic diseases are a wide clinically and genetically heterogeneous group of diseases that belong to rare diseases but overall with a high frequency in our population. In this study, we aimed to identify the distribution of the patients by the diagnosis retrospectively using the available data from the Medical Genetics Department of Cukurova University Medical Faculty.
Patients and Methods:Between April 2013 when the Medical Genetics Department was first established and April 2016, the database of the department together with the referred patients from Pediatric Metabolism and Endocrinology Department and Department of Gynecology and Obstetrics were obtained.
Results:1789 patients from 577 families underwent genetic testing and genetic counseling. The positivity rate of genetic testing was %31.5, while the carrier rate was %20.15. Among all these cases, the most common three of them were biotinidase deficiency, phenylketonuria and glycogen storage diseases were the most common ones while the phenylketonuria, biotinidase deficiency and mucopolysaccharidosis had the highest positivity rate among all (Table 1). Additionally, prenatal genetic diagnosis due to the clinical indications was done for 21 cases.
Conclusion:Inherited metabolic diseases on genetically heterogeneous base resulted in clinically complex features, are one of the most important public health issues in our country. Therefore, the awareness in rare diseases is really important. Our results also provide a solid background for possible future newborn screening programs and highlight the importance genetic testing from the perspective of our single-center experience in which consanguineous marriages are in high frequency as well as all around the country.

Project Number

(TAY-2016-4020)

References

  • Hampe MH, Panaskar SN, Yadav AA, Ingale PW. Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. Clin Biochem. 2017;50(3):121-126.
  • 2. Papadopoulou-Legbelou K, Gogou M, Evangeliou A. Cardiac Manifestations in Children with Inborn Errors of Metabolism. Indian Pediatr. 2017;54(8):667-673.
  • 3. Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, ve ark. ClinGen Inborn Errors of Metabolism Working Group. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018;39(11):15691580.
  • 4. Seker Yilmaz B, Mungan NO, Kor D, Bulut D, Seydaoglu G, Öktem M, ve ark. Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. J Pediatr Endocrinol Metab. 2018;31(3):339-343.
  • 5. Löscher WN, Huemer M, Stulnig TM, Simschitz P, Iglseder S, Eggers C, ve ark. Pompe disease in Austria: clinical, genetic and epidemiological aspects. J Neurol. 2018;265(1):159-164.
  • 6. Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, ve ark. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders. J Paediatr Child Health. 2017;53(6):585-591.
  • 7. Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, ve ark. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. Ann Lab Med. 2016;36(6):561-72.
There are 7 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Research Articles
Authors

Sevcan Tuğ Bozdoğan

Halise Neslihan Önenli Mungan

İbrahim Boğa

Hamit Mert Yaşar

Selim Büyükkurt

Atıl Bişgin

Project Number (TAY-2016-4020)
Publication Date December 16, 2020
Submission Date November 30, 2018
Published in Issue Year 2021

Cite

EndNote Tuğ Bozdoğan S, Önenli Mungan HN, Boğa İ, Yaşar HM, Büyükkurt S, Bişgin A (December 1, 2020) The Importance of Genetic Diagnosis for Inherited Metabolic Diseases: Distribution and Experience of Cukurova University Faculty of Medicine Balcali Hospital. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 12 1 29–32.