Abstract
Sarılık nedeniyle başvuran direk ve indirek hiperbilirubinemi saptanan yenidoğan olgusunda klasik galaktozemi tanısı konulmuş ve genetik mutasyon sonucuyla tanı doğrulanmıştır. Bu olgu, yenidoğan döneminde saptanan sarılığın galaktozemi açısından acil değerlendirilmesinin ve tedavisinin önemini vurgulamak için paylaşılmıştır.
Keywords
References
- 1. 1. National Center for Biotechnology Information. ClinVar; [VCV000003609.13], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000003609.13 (accessed June 16, 2022).
- 2. 2. Lewis V, Welch F, Cherry F, Flood E, Marble M. Galactosemia: clinical features, diagnosis and management. A case report. J La State Med Soc. 1995;147(6):262-265.
- 3. 3. Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Newborn screening for galactosaemia. Cochrane Database Syst Rev. 2020;6:CD012272. doi:10.1002/14651858.CD012272.pub3
- 4. 4. Garcia DF, Camelo JS, Molfetta GA, et al. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. BMC Med Genet. 2016;17(1):39. doi:10.1186/s12881-016-0300-8
- 5. 5. Karadag N, Zenciroglu A, Eminoglu FT, et al. Literature review and outcome of classic galactosemia diagnosed in the neonatal period. Clin Lab. 2013;59(9-10):1139-1146. doi:10.7754/clin.lab.2013.121235
- 6. 6. Kavehmanesh Z, Torkaman M, Beiraghdar F. A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia. Turk pediatri arsivi. 2020;55(3):316-319. doi:10.14744/TurkPediatriArs.2019.21298
- 7. 7. Atik SU, Gürsoy S, Koçkar T, Önal H, Adal SE. Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. Turk pediatri arsivi. 2016;51(4):204-209. doi:10.5152/TurkPediatriArs.2016.3759
Abstract
A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia. Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools. It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.
Keywords
References
- 1. 1. National Center for Biotechnology Information. ClinVar; [VCV000003609.13], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000003609.13 (accessed June 16, 2022).
- 2. 2. Lewis V, Welch F, Cherry F, Flood E, Marble M. Galactosemia: clinical features, diagnosis and management. A case report. J La State Med Soc. 1995;147(6):262-265.
- 3. 3. Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Newborn screening for galactosaemia. Cochrane Database Syst Rev. 2020;6:CD012272. doi:10.1002/14651858.CD012272.pub3
- 4. 4. Garcia DF, Camelo JS, Molfetta GA, et al. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. BMC Med Genet. 2016;17(1):39. doi:10.1186/s12881-016-0300-8
- 5. 5. Karadag N, Zenciroglu A, Eminoglu FT, et al. Literature review and outcome of classic galactosemia diagnosed in the neonatal period. Clin Lab. 2013;59(9-10):1139-1146. doi:10.7754/clin.lab.2013.121235
- 6. 6. Kavehmanesh Z, Torkaman M, Beiraghdar F. A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia. Turk pediatri arsivi. 2020;55(3):316-319. doi:10.14744/TurkPediatriArs.2019.21298
- 7. 7. Atik SU, Gürsoy S, Koçkar T, Önal H, Adal SE. Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. Turk pediatri arsivi. 2016;51(4):204-209. doi:10.5152/TurkPediatriArs.2016.3759
Details
| Primary Language | English |
|---|---|
| Subjects | Paediatrics |
| Journal Section | Case Studies |
| Authors | |
| Publication Date | January 27, 2023 |
| Submission Date | August 17, 2022 |
| Published in Issue | Year 2022 |