Prenatal diagnosis of phenylketonuria and bilateral renal agenesis in a fetus

Authors

DOI:

https://doi.org/10.18370/2309-4117.2018.42.16-20

Keywords:

phenylketonuria, renal agenesis, Potter anomalad (sequencing), ultrasound prenatal diagnosis, invasive prenatal diagnosis, chorionic villus biopsy, molecular genetic studies

Abstract

Phenylketonuria (PKU) is a congenital, genetically determined metabolic disorder of the essential amino acid phenylalanine (PA). PKU is caused by mutation in the phenylalanine hydroxylase gene (PAH). In different populations PKU affects about one in 8,000–15,000 newborns. PKU, as an orphan disease, per se, rarely occurs in conjunction with any other congenital and hereditary pathology. This is precisely why the concurrent combination of the rare pathology of various genesis in one patient presents an undoubted clinical interest.

The paper reports on the case of early prenatal diagnosis of PKU and bilateral renal agenesis (BRA) in one fetus of the first trimester of pregnancy. BRA has an estimated incidence of one in 3,000–5,000 births. The paper also discusses the specific features of ultrasonic prenatal diagnosis of BRA in the І-ІІ trimesters of pregnancy. The med literature data shows that 9% of first-degree relatives of a fetus with BRA have various congenital anomalies of kidneys, the majority of which are asymptomatic. In this case, ultrasound scanning of all family members ruled out any morphological abnormalities of their kidneys.

Based on the average frequency of BRA (1: 5,000) and PKU (1: 7,000) indicated in various med literature sources, the probability of such event makes 1: 35 000 000 cases, which illustrates the rarity of this findings.

Authors of article analyzed the PKU’s encounter with various hereditary and congenital pathologies registered in “Multiregional Center of Medical Genetics and Prenatal Diagnosis named after P.M. Veropotvelyan” between 1986 and 2017. According to research, the encounter rate of PKU with other hereditary and congenital pathology makes 1:31 among patients with PKU and 1: 278 215 among all newborns surveyed for this period in the southeastern and central Ukraine.

Author Biographies

Н. П. Веропотвелян, CI “Multiregional Center of Medical Genetics and Prenatal Diagnosis named after P.M. Veropotvelyan” DRC, Kryvyi Rih

PhD, Chief Physician

Г. В. Макух, SI “Institute of hereditary pathology of the NAMS of Ukraine», Lviv

MD, leading researcher at Department of diagnostics of hereditary pathology

Л. Б. Чорна, SI “Institute of hereditary pathology of the NAMS of Ukraine», Lviv

PhD, researcher at Department of diagnostics of hereditary pathology

Т. А. Нетребко, CI “Multiregional Center of Medical Genetics and Prenatal Diagnosis named after P.M. Veropotvelyan” DRC, Kryvyi Rih

Geneticist, head of consulting and polyclinic department

Ю. С. Погуляй, CI “Multiregional Center of Medical Genetics and Prenatal Diagnosis named after P.M. Veropotvelyan” DRC, Kryvyi Rih

Biologist at the Department of Molecular Genetics of Medical and Genetic Research Laboratory

Е. О. Хаванская, CI «Zaporizhzhya regional pathoanatomical bureau» ZRC, Zaporizhzhya

Head of the children’s pathoanatomical department №1

References

  1. Methodical recommendations for diagnosis and treatment of phenylketonuria. Online resource of the Ukrainian organization of parents of disabled children with phenylketonuria. Available from: [http://pku.org.ua/organization/about_disease/what_is_phenylketonuria/], last accessed Aug 20, 2018.
  2. Studenikin, V.M., Bushueva, Т.V., Borovik, T.E. “Phenylketonuria in children and its treatment.” The attending physician. Medical scientific and practical portal. Available from: [https://www.lvrach.ru/2011/09/10640044/], last accessed Aug 20, 2018.
  3. Güneralİ, F., Özalp, H., Tatlidi, l. “Heterozygous carriers of classical phenylketonuria in a sample of the turkish population: Detection by a spectrofluorimetric method.” Journal of Inherited Metabolic Disease 14 (1991): 741–8.
  4. Andrade, R., Monteiro, V., Cruz, C., et al. “Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals.” Journal of Inborn Errors of Metabolism & Screening 1.6 (2015).
  5. Vogel, F. “Phenotypic deviations in heterozygotes of phenylketonuria (PKU).” Progress in clinical and biological research 177 (1985): 337–49.
  6. Saugstad, L.F. “Increased “reproductive casualty” in heterozygotes for phenylketonuria.” Available from: [http://onlinelibrary.wiley. com/doi/10.1111/j.1399-0004.1973.tb01130.x/full], last accessed Aug 20, 2018.
  7. Saugstad, L.F. “Heterozygote advantage for the phenylketonuria allele.” J Med Genet 14.1 (1977): 20–4.
  8. Center of Molecular Genetics. Available from: [http://www.dnalab.ru/diseases-diagnostics/phenylketonuria], last accessed Aug 20, 2018.
  9. Cytogenetic methods for the study of human chromosomes. Guidelines. Kyiv (2003): 23 p.
  10. Hennermann, J.B., Roloff, S., Gellermann, J., et al. “Chronic kidney disease in adolescent and adult patients with phenylketonuria.” Journal of Inherited Metabolic Disease 36.5 (2012): 747–56.
  11. Prenatal echography. Differential diagnosis and prognosis. 2-nd ed., rev. Moscow. Real Time (2009): 384 p.
  12. Paladini, D., Volpe, P. Ultrasound of congenital fetal anomalies. Differential diagnosis and prognostic indicators (2007): 361 p.
  13. Benacerraf, B. Ultrasound of fetal syndromes. 2-nd ed. (2008): 650 p.

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Published

2018-10-12

How to Cite

Веропотвелян, Н. П., Макух, Г. В., Чорна, Л. Б., Нетребко, Т. А., Погуляй, Ю. С., & Хаванская, Е. О. (2018). Prenatal diagnosis of phenylketonuria and bilateral renal agenesis in a fetus. REPRODUCTIVE ENDOCRINOLOGY, (42), 16–20. https://doi.org/10.18370/2309-4117.2018.42.16-20

Issue

No. 42 (2018)

Section

Interdisciplinary problems

License

Copyright (c) 2018 Н. П. Веропотвелян, Г. В. Макух, Л. Б. Чорна, Т. А. Нетребко, Ю. С. Погуляй, Е. О. Хаванская

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