Noonan syndrome in a child with non-immune hydrops fetalis
- Авторлар: Kurtser M.A.1, Sirotkina Y.D.2, Breslav I.Y.1, Volkov S.N.3
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Мекемелер:
- Pirogov Russian National Research Medical University, Ministry of Health of Russia
- MGIMO-MED Medical University
- MD GROUP Clinical Hospital, JSC MD PROJECT 2000
- Шығарылым: № 2 (2025)
- Беттер: 143-147
- Бөлім: Clinical Notes
- URL: https://journals.rcsi.science/0300-9092/article/view/291078
- DOI: https://doi.org/10.18565/aig.2024.279
- ID: 291078
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Аннотация
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.
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##article.viewOnOriginalSite##Авторлар туралы
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
Ресей, 117997, Moscow, Ostrovityanov str., 1Yulia Sirotkina
MGIMO-MED Medical University
Email: sirotkina2000@list.ru
ORCID iD: 0009-0001-8841-9636
resident obstetrician-gynecologist
Ресей, 143081, Moscow region, Odintsovsky urban district, Lapino village, 111Irina Breslav
Pirogov Russian National Research Medical University, Ministry of Health of Russia
Хат алмасуға жауапты Автор.
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
Ресей, 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
Ресей, 117209, Moscow, Sevastopolsky Ave., 24/1Әдебиет тізімі
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