Noonan syndrome in a child with non-immune hydrops fetalis
- Autores: Kurtser M.A.1, Sirotkina Y.D.2, Breslav I.Y.1, Volkov S.N.3
-
Afiliações:
- Pirogov Russian National Research Medical University, Ministry of Health of Russia
- MGIMO-MED Medical University
- MD GROUP Clinical Hospital, JSC MD PROJECT 2000
- Edição: Nº 2 (2025)
- Páginas: 143-147
- Seção: Clinical Notes
- URL: https://journals.eco-vector.com/0300-9092/article/view/678039
- DOI: https://doi.org/10.18565/aig.2024.279
- ID: 678039
Citar
Texto integral
Acesso aberto
Acesso está concedido
Acesso é pago ou somente para assinantes
Resumo
Background: Non-immune hydrops fetalis (NIHF) is a pathological condition associated with high perinatal mortality, particularly in preterm neonates. It is manifested by extensive subcutaneous edema and accumulation of fluid in the body cavities of newborns. NIHF can have different causes. One of them is thought to be a group of abnormalities in the RAS-MAPK (RAS-mitogen activated protein kinase) signaling pathway genes, whose products are involved in information transfer from the cell membrane to the cell nucleus.
Case report: NIHF is characterized by a complex diagnostic process and multimodal treatment approaches during the postnatal period. A premature male infant was delivered by emergency caesarean section at 31 weeks due to rapidly developing NIHF. Noonan syndrome was eventually diagnosed. Clinically, the infant presented with severe generalized edema and multiple congenital malformations.
Conclusion: RAS-pathies have been reported to be a cause of various fetal structural abnormalities. This observation would be an addition to the existing data on prenatal phenotypes of Noonan syndrome caused by PTPN11 mutations. Whole-exome sequencing demonstrated its advantage in the diagnosis of prenatal disorders, while the result of conventional karyotyping or chromosomal microarray analysis did not reveal abnormalities.
Palavras-chave
Texto integral
Sobre autores
Mark Kurtser
Pirogov Russian National Research Medical University, Ministry of Health of Russia
Email: m.kurtser@mcclinics.ru
ORCID ID: 0000-0003-0175-1968
Dr. Med. Sci., Professor, Academician of the Russian Academy of Sciences, Head of Savelyeva Department of Obstetrics and Gynecology of the Institute of Maternity and Childhood
Rússia, 117997, Moscow, Ostrovityanov str., 1Yulia Sirotkina
MGIMO-MED Medical University
Email: sirotkina2000@list.ru
ORCID ID: 0009-0001-8841-9636
resident obstetrician-gynecologist
Rússia, 143081, Moscow region, Odintsovsky urban district, Lapino village, 111Irina Breslav
Pirogov Russian National Research Medical University, Ministry of Health of Russia
Autor responsável pela correspondência
Email: irina_breslav@mail.ru
ORCID ID: 0000-0002-0245-4968
Dr. Med. Sci., Professor at Savelyeva Department of Obstetrics and Gynecology of the Institute of Maternity and Childhood
Rússia, 117997, Moscow, Ostrovityanov str., 1
Sergey Volkov
MD GROUP Clinical Hospital, JSC MD PROJECT 2000
Email: volkov-s.n@mail.ru
ORCID ID: 0009-0000-3847-8366
Deputy Medical Director of the “Mother and Child” Group for neonatal resuscitation; anesthesiologist-resuscitator at the Neonatal Resuscitation Department
Rússia, 117209, Moscow, Sevastopolsky Ave., 24/1Bibliografia
- Guo D., He S., Lin N., Dai Y., Li Y., Xu L. et al. Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center. BMC Med. Genomics. 2023; 16(1): 83. https://dx.doi.org/10.1186/s12920-023-01505-y.
- Думова С.В., Саркисян Е.А., Чугунова О.Л., Прохоров И.Д., Николаева М.И., Глоба М.Р., Нам Д.И., Журавлева И.В., Шумилов П.В. Неиммунная водянка плода: этиология, патогенез, особенности диагностики и лечения у плода и новорожденного. Детские инфекции. 2024; 23(1): 35-43. [Dumova S.V., Sarkisyan E.A., Chugunova O.L., Prokhorov I.D., Nikolaeva M.I., Globa M.R., Nam D.I., Zhuravleva I.V., Shumilov P.V. Non-immune hydrops fetalis: etiology, pathogenesis, diagnostics and treatment features in the fetus and newborn. Childhood infections. 2024; 23(1): 35-43. (in Russian)]. https://dx.doi.org/10.22627/2072-8107-2024-23-1-35-43.
- Hebron K.E., Hernandez E.R., Yohe M.E. The RASopathies: from pathogenetics to therapeutics. Dis. Model. Mech. 2022; 15(2): dmm049107. https:// dx.doi.org/10.1242/dmm.049107.
- Delogu A.B., Limongelli G., Versacci P., Adorisio R., Kaski J.P., Blandino R. et al. The heart in RASopathies. Am. J. Med. Genet. C. Semin. Med. Genet. 2022; 190(4): 440-51. https://dx.doi.org/10.1002/ajmg.c.32014.
- Tartaglia M., Aoki Y., Gelb B.D. The molecular genetics of RASopathies: An update on novel disease genes and new disorders. Am. J. Med. Genet. C. Semin. Med. Genet. 2022; 190(4): 425-39. https://dx.doi.org/10.1002/ ajmg.c.32012.
- Люшнина Д.Г., Шубина Е., Тетруашвили Н.К., Зарецкая Н.В., Большакова А.С., Пак В.С., Кузнецова М.В., Михайловская Г.В., Бокерия Е.Л., Трофимов Д.Ю. Диагностика синдрома Нунан у беременных с неиммунной водянкой плода: тактика, исходы, консультирование. Акушерство и гинекология. 2024; 10: 34-40. [Lyushnina D.G., Shubina Je., Tetruashvili N.K., Zaretskaya N.V., Bolshakova A.S., Pak V.S., Kuznetsova M.V., Mikhailovskaya G.V., Bokeriya E.L., Trofimov D.Yu. Diagnosis of Noonan syndrome in pregnant women with nonimmune hydrops fetalis: tactics, outcomes, counseling. Obstetrics and Gynecology. 2024; (10): 34-40 (in Russian)]. https://dx.doi.org/10.18565/aig.2024.196.
- Люшнина Д.Г., Тетруашвили Н.К., Шубина Е., Зарецкая Н.В., Толмачева Е.Р., Свирепова К.А., Большакова А.С., Пак В.С., Бокерия Е.Л., Трофимов Д.Ю. Лизосомные болезни накопления как одна из причин неиммунной водянки плода. Акушерство и гинекология. 2023; 12: 78-86. [Lyushnina D.G., Tetruashvili N.K., Shubina Je., Zaretskaya N.V., Tolmacheva E.R., Svirepova K.A., Bolshakova A.S., Pak V.S., Bokeriya E.L., Trofimov D.Yu. Lysosomal storage diseases as a cause of non-immune hydrops fetalis. Obstetrics and Gynecology. 2023; (12): 78-86 (in Russian)]. https://dx.doi.org/10.18565/aig.2023.221.
Arquivos suplementares
