Neonatal diabetes mellitus – manifestation of GATA-6 syndrome
GATA6 syndrome is an unusual genetic disorder that presents complications during pregnancy, congenital heart defects, neonatal diabetes, and severe pancreatic dysfunction. The cause of the syndrome is a de novo mutation in the GATA6 gene, located on chromosome 18. We present the case of a patient wh...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2024-09-01
|
| Series: | Romanian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://rjp.com.ro/articles/2024.3/RJP_2024_3_Art-04.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850061070442430464 |
|---|---|
| author | Galina Gorbunov Andrian Chiriac Marina Vasilita |
| author_facet | Galina Gorbunov Andrian Chiriac Marina Vasilita |
| author_sort | Galina Gorbunov |
| collection | DOAJ |
| description | GATA6 syndrome is an unusual genetic disorder that presents complications during pregnancy, congenital heart defects, neonatal diabetes, and severe pancreatic dysfunction. The cause of the syndrome is a de novo mutation in the GATA6 gene, located on chromosome 18. We present the case of a patient who exhibited congenital heart defects and severe hyperglycemia from the neonatal period, caused by pancreatic agenesis. The diagnosis was established based on molecular genetic analyses. Insulin and pancreatic enzyme replacement therapy provide a favorable prognosis in pancreatic agenesis, significantly reducing neonatal mortality associated with this drastic diagnosis. |
| format | Article |
| id | doaj-art-44783fe2dbbb40ff8524513b8830d5d9 |
| institution | DOAJ |
| issn | 1454-0398 2069-6175 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Journal of Pediatrics |
| spelling | doaj-art-44783fe2dbbb40ff8524513b8830d5d92025-08-20T02:50:22ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752024-09-0173316917410.37897/RJP.2024.3.4Neonatal diabetes mellitus – manifestation of GATA-6 syndromeGalina Gorbunov0Andrian Chiriac1Marina Vasilita2“Nicolae Testemitanu” State University of Medicine and Pharmacy, Chisinau, Republic of MoldovaPublic Medical-Sanitary Institution Mother and Child Institute, Chisinau, Republic of Moldova“Nicolae Testemitanu” State University of Medicine and Pharmacy, Chisinau, Republic of MoldovaGATA6 syndrome is an unusual genetic disorder that presents complications during pregnancy, congenital heart defects, neonatal diabetes, and severe pancreatic dysfunction. The cause of the syndrome is a de novo mutation in the GATA6 gene, located on chromosome 18. We present the case of a patient who exhibited congenital heart defects and severe hyperglycemia from the neonatal period, caused by pancreatic agenesis. The diagnosis was established based on molecular genetic analyses. Insulin and pancreatic enzyme replacement therapy provide a favorable prognosis in pancreatic agenesis, significantly reducing neonatal mortality associated with this drastic diagnosis.https://rjp.com.ro/articles/2024.3/RJP_2024_3_Art-04.pdfgata6 syndromeneonatal diabetes mellituspancreatic agenesischildren |
| spellingShingle | Galina Gorbunov Andrian Chiriac Marina Vasilita Neonatal diabetes mellitus – manifestation of GATA-6 syndrome Romanian Journal of Pediatrics gata6 syndrome neonatal diabetes mellitus pancreatic agenesis children |
| title | Neonatal diabetes mellitus – manifestation of GATA-6 syndrome |
| title_full | Neonatal diabetes mellitus – manifestation of GATA-6 syndrome |
| title_fullStr | Neonatal diabetes mellitus – manifestation of GATA-6 syndrome |
| title_full_unstemmed | Neonatal diabetes mellitus – manifestation of GATA-6 syndrome |
| title_short | Neonatal diabetes mellitus – manifestation of GATA-6 syndrome |
| title_sort | neonatal diabetes mellitus manifestation of gata 6 syndrome |
| topic | gata6 syndrome neonatal diabetes mellitus pancreatic agenesis children |
| url | https://rjp.com.ro/articles/2024.3/RJP_2024_3_Art-04.pdf |
| work_keys_str_mv | AT galinagorbunov neonataldiabetesmellitusmanifestationofgata6syndrome AT andrianchiriac neonataldiabetesmellitusmanifestationofgata6syndrome AT marinavasilita neonataldiabetesmellitusmanifestationofgata6syndrome |