Newborn treated with continuous renal replacement therapy for citrulinemia-type 1
Introduction: Hyperammonemia occurs as a result of the inability to convert ammonia, a metabolic toxin, into urea due to a block in the urea cycle, and there resulting neurotoxicity is responsible for the pathogenesis. Case Presentation: Our patient was 7 days old when followed up in an external...
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Association of medical doctors Sanamed Novi Pazar
2022-12-01
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| Online Access: | https://www.sanamed.rs/OJS/index.php/Sanamed/article/view/558/309 |
| _version_ | 1797281084135702528 |
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| author | Tosun Demet Akcay Nihal Menentoğlu Emin Mehmet Şevketoğlu Esra Salihoğlu Ozgul |
| author_facet | Tosun Demet Akcay Nihal Menentoğlu Emin Mehmet Şevketoğlu Esra Salihoğlu Ozgul |
| author_sort | Tosun Demet |
| collection | DOAJ |
| description | Introduction: Hyperammonemia occurs as a result of the inability to convert ammonia, a metabolic toxin, into urea due to a block in the urea cycle, and there resulting neurotoxicity is responsible for the pathogenesis.
Case Presentation: Our patient was 7 days old when followed up in an external center for 3 days with a preliminary diagnosis of neonatal sepsis. Lethargy, vomiting, tachypnea, and convulsions, which are frequently seen in the first neonatal forms of urea cycle disorders, were also present in our patient. He was referred to us as a result of high ammonia levels when he was examined in terms of congenital metabolic diseases. He was intubated due to the rapid development of respiratory failure. When he was admitted to our intensive care unit with hyperammonemia, light reflex could not be obtained, and widespread cutis marmaratus was developed. Continuous renal replacement therapy was started in our patient and administered intermittently for 120 hours. The glucose infusion rate was followed by high fluid. When it orally tolerated, it is supported with sodium benzoate and sodium stearyl fumarate to reduce ammonia. Nutrition was limited to protein with Basic P.
Conclusion: After staying in the intensive care unit for 30 days, our patient was discharged with the recommendation of outpatient follow-up by the pediatric metabolism physician. When our patient came for his check up after two months,there was no nystagmus and no seizures. |
| first_indexed | 2024-03-07T16:51:25Z |
| format | Article |
| id | doaj.art-c4e43d63f0d04304a7ce41ed84e694a5 |
| institution | Directory Open Access Journal |
| issn | 1452-662X 2217-8171 |
| language | English |
| last_indexed | 2024-03-07T16:51:25Z |
| publishDate | 2022-12-01 |
| publisher | Association of medical doctors Sanamed Novi Pazar |
| record_format | Article |
| series | Sanamed |
| spelling | doaj.art-c4e43d63f0d04304a7ce41ed84e694a52024-03-03T05:23:08ZengAssociation of medical doctors Sanamed Novi PazarSanamed1452-662X2217-81712022-12-0117317517810.5937/sanamed0-40473Newborn treated with continuous renal replacement therapy for citrulinemia-type 1Tosun Demet0Akcay Nihal1Menentoğlu Emin Mehmet2Şevketoğlu Esra3Salihoğlu Ozgul4Department of Pediatric Intensive Care Unit, Bakırköy Dr. Sadi Konuk Research and Training Hospital, University of Health Sciences, Istanbul, TurkeyDepartment of Pediatric Intensive Care Unit, Bakırköy Dr. Sadi Konuk Research and Training Hospital, University of Health Sciences, Istanbul, TurkeyDepartment of Pediatric Intensive Care Unit, Bakırköy Dr. Sadi Konuk Research and Training Hospital, University of Health Sciences, Istanbul, TurkeyDepartment of Pediatric Intensive Care Unit, Bakırköy Dr. Sadi Konuk Research and Training Hospital, University of Health Sciences, Istanbul, TurkeyNewborn Intensive Care Unit, Bakırköy Dr. Sadi Konuk Research and Training Hospital, University of Health Sciences, Istanbul, TurkeyIntroduction: Hyperammonemia occurs as a result of the inability to convert ammonia, a metabolic toxin, into urea due to a block in the urea cycle, and there resulting neurotoxicity is responsible for the pathogenesis. Case Presentation: Our patient was 7 days old when followed up in an external center for 3 days with a preliminary diagnosis of neonatal sepsis. Lethargy, vomiting, tachypnea, and convulsions, which are frequently seen in the first neonatal forms of urea cycle disorders, were also present in our patient. He was referred to us as a result of high ammonia levels when he was examined in terms of congenital metabolic diseases. He was intubated due to the rapid development of respiratory failure. When he was admitted to our intensive care unit with hyperammonemia, light reflex could not be obtained, and widespread cutis marmaratus was developed. Continuous renal replacement therapy was started in our patient and administered intermittently for 120 hours. The glucose infusion rate was followed by high fluid. When it orally tolerated, it is supported with sodium benzoate and sodium stearyl fumarate to reduce ammonia. Nutrition was limited to protein with Basic P. Conclusion: After staying in the intensive care unit for 30 days, our patient was discharged with the recommendation of outpatient follow-up by the pediatric metabolism physician. When our patient came for his check up after two months,there was no nystagmus and no seizures.https://www.sanamed.rs/OJS/index.php/Sanamed/article/view/558/309hyperammonemianewbornsepsis |
| spellingShingle | Tosun Demet Akcay Nihal Menentoğlu Emin Mehmet Şevketoğlu Esra Salihoğlu Ozgul Newborn treated with continuous renal replacement therapy for citrulinemia-type 1 Sanamed hyperammonemia newborn sepsis |
| title | Newborn treated with continuous renal replacement therapy for citrulinemia-type 1 |
| title_full | Newborn treated with continuous renal replacement therapy for citrulinemia-type 1 |
| title_fullStr | Newborn treated with continuous renal replacement therapy for citrulinemia-type 1 |
| title_full_unstemmed | Newborn treated with continuous renal replacement therapy for citrulinemia-type 1 |
| title_short | Newborn treated with continuous renal replacement therapy for citrulinemia-type 1 |
| title_sort | newborn treated with continuous renal replacement therapy for citrulinemia type 1 |
| topic | hyperammonemia newborn sepsis |
| url | https://www.sanamed.rs/OJS/index.php/Sanamed/article/view/558/309 |
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