میزان بروز فنیل کتونوری و تأثیر اجرای برنامه کشوری پیشگیری بر کاهش بروز آن در جمعیت تحت پوشش دانشگاه علوم پزشکی کرمان طی سال‌های 98-1386

نوع مقاله : اصیل پژوهشی

نویسندگان

1 مربی گروه بهداشت عمومی، دانشکده بهداشت، دانشگاه علوم پزشکی جیرفت، جیرفت، ایران.

2 پزشک عمومی، معاونت بهداشتی، دانشگاه علوم پزشکی کرمان، کرمان، ایران.

3 دانشجوی دکتری تخصصی روان‌شناسی کودکان استثنایی، دانشکده روان‌شناسی و علوم تربیتی، دانشگاه علامه طباطبایی، تهران، ایران.

4 کارشناس بهداشت عمومی، مرکز بهداشت شهرستان کرمان، دانشگاه علوم پزشکی کرمان، کرمان، ایران.

5 دانشجوی دکتری تخصصی، کمیته تحقیقات دانشجویی، دانشگاه علوم پزشکی کرمان، کرمان، ایران.

چکیده

مقدمه: فنیل کتونوری، شایع‌ترین بیماری متابولیک ارثی در ایران است که با انجام آزمایشات تشخیص قبل از تولد قابل پیشگیری است. مطالعه حاضر با هدف تعیین میزان بروز فنیل کتونوری و تأثیر اجرای برنامه پیشگیری بر کاهش بروز آن در جمعیت تحت پوشش دانشگاه علوم پزشکی کرمان انجام شد.
روش‌کار: این مطالعه توصیفی و از نوع تحقیق در نظام سلامت بود. در این مطالعه تمام زوجین ناقل فنیل کتونوری و بیماران تحت پوشش دانشگاه علوم پزشکی کرمان در سال 1398 بررسی شدند. داده‌های مربوط به بیماران از فرم کشوری بررسی اپیدمیولوژیک بیماری‌های ژنتیک و داده‌های مربوط به مراقبت زوجین ناقل، از فرم مراقبت ژنتیک موجود در معاونت بهداشتی به‌دست آمد. برای توصیف اطلاعات از جدول فراوانی و نمودار استفاده شد.
یافته‌ها: 63 زوج ناقل و 68 بیمار تحت پوشش بودند. 37 زوج (6/60%) ناقل در معرض خطر تولد فرزند بیمار بودند که همگی آنها تحت مراقبت مراکز ارائه خدمات سلامت بودند و برای 9/91% آنها نوع جهش ژن تعیین شده بود. برای بستگان در معرض خطر 9/61% از زوجین، نوع جهش ژن تعیین شده بود. جهت 28 زن باردار (5/87%) آزمایش تشخیص قبل از تولد انجام شده بود. 7 جنین مبتلا تشخیص داده شده بود که برای همگی سقط درمانی انجام شده بود. 32 زوج (5/86%) در معرض خطر، از روش مطمئن پیشگیری از بارداری استفاده می‌کردند. میزان بروز 13 ساله فنیل کتونوری در کل منطقه 13/1 و میزان بروز مورد انتظار 36/1 در 10 هزار تولد زنده بود.
نتیجه‌گیری: اجرای برنامه پیشگیری، بر کاهش بروز فنیل کتونوری تأثیر داشته است. فراوانی بالای ازدواج‌های خویشاوندی می‌تواند بر بروز بالای بیماری فنیل کتونوری تأثیر داشته باشد. شناسایی بستگان بیمار که در معرض خطر تولد فرزند بیمار هستند (ازدواج خویشاوندی)، ارجاع آنها به مرکز مشاوره ژنتیک و تعیین وضعیت آنها، می‌تواند بر کاهش بروز این بیماری مؤثر باشد.

کلیدواژه‌ها

عنوان مقاله [English]

Incidence of phenylketonuria and the effect of prevention national program on reducing its incidence in the population covered by Kerman University of Medical Sciences during 2007-2020

نویسندگان [English]

  • Salman Daneshi 1
  • Fatemeh Mohseni Takaloo 2
  • Maryam Rezabeigi Davarani 3
  • Batool Heidarabadi 4
  • Esmat Rezabeigi Davarani 5
1 Instructor, Department of Public Health, School of Health, Jiroft University of Medical Sciences, Jiroft, Iran.
2 General practitioner, Deputy of Health, Kerman University of Medical Sciences, Kerman, Iran.
3 PhD candidate in Psychology of Exceptional Children, Faculty of Psychology and Educational Sciences, Allameh Tabataba'i University, Tehran, Iran.
4 B.Sc. in Public Health, Kerman Health Center, Kerman University of Medical Sciences, Kerman, Iran.
5 PhD candidate, Student Research Committee, Kerman University of Medical Sciences, Kerman, Iran.
چکیده [English]

Introduction: Phenylketonuria (PKU) is the most common inherited metabolic disease in Iran that can be prevented by prenatal diagnostic tests (PND). This study was performed aimed to determine the incidence of PKU and the effect of implementing a prevention program on reducing its incidence in the population covered by Kerman University of Medical Sciences.
Methods: This was a descriptive study on health system research. All PKU carrier couples and patients covered by Kerman University of Medical Sciences in 2019 were studied. Data were obtained from the national form of epidemiological study of genetic diseases and genetic surveillance form from the Deputy Minister of Health. Frequency tables and graphs were used to describe the information.
Results: In this study, 68 patients and 63 carrier couples were covered and 37 (60.6%) carrier couples were at risk of having a sick child and all of them were under the care of health care centers. For 91.9% of them and 61.9% high-risk relatives, the type of gene mutation was determined. PND tests were performed on 28 (87.5%) pregnant women. Seven affected fetuses were diagnosed, all of which were aborted with parental consent. 32 high-risk couples (86.5%) used safe method of contraception. The 13-year incidence of PKU in the whole region was 1.13 and the expected incidence was 1.36 per 10,000 live births.
Conclusion: Implementation of prevention program had an effect on reducing the incidence of PKU. The high frequency of consanguineous marriages can affect the high incidence of PKU. It is necessary to identify the patient's relatives who are at risk of having a sick child (consanguineous marriage), refer them to a genetic counseling center and determining their status can be effective in reducing the incidence of the disease.

کلیدواژه‌ها [English]

  • Incidence
  • Phenylketonuria
  • Prenatal Diagnosis
  • Therapeutic Abortion

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مجله زنان، مامایی و نازایی ایران
دوره 24، شماره 13
اسفند 1400
صفحه 59-69

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