Pediatri Kliniklerinde Kan Amonyak Tetkiki İstenme Sıklığının Çocuk Metabolizma Bölümü Açılması Öncesinde ve Sonrasında Değerlendirilmesi

Yıl 2024, Cilt: 34 Sayı: 4, 574 - 580, 31.08.2024

Banu Kadıoğlu Yılmaz , İbrahim Abo Aljoud Jawas Ajam , Fuada Rzayeva , Mehmet Eren Güzel , Aslı Selen Yayla , Zeynep Azra Tekin , Senanur Aydın , Sena Nur Akyol , Yavuz Emre Eğri , İlknur Sert , Songül Güllibahçe , Emine Çoban , Mustafa Eren Özlü , Emirhan Eldem , Beyza Nur Eviz

https://doi.org/10.54005/geneltip.1488010

Öz

Amaç: Hiperamonyemi, fark edilmediğinde ciddi mortalite ve morbiditelere neden olur. Bir pediatri kliniğinde, Çocuk Metabolizma Hastalıkları kliniği (ÇMHK) açılmadan öncesi ve sonrası amonyak istem sayılarının karşılaştırılmasını amaçladık.
Yöntem: Çalışma, 15/11/2022-16/11/2023 tarihleri arasında retrospektif olarak gerçekleştirildi. ÇMHK kurulmasına göre öncesi ve sonrası olarak çalışma verileri değerlendirildi.
Bulgular: Çalışmada 285 başvuru değerlendirildi. Öncesi grupta 99, sonrası grupta 186 başvuru vardı. Öncesi grupta 17, sonrası grupta 29 farklı nedenle başvuru oldu. En sık başvuru nedenleri; transaminaz yüksekliği, nöbet, kusma ve metabolik asidozdu. Öncesi grupta başvuran hastaların 16(%17,6)’sına, sonrası gruptaysa 39(%23,8)’una tanı konuldu. En sık tanılar; genetik sendromlar, mitokondriyal hastalıklar ve organik asidemilerdi. 21 hastaya kalıtsal metabolik hastalık(KMH) tanısı konuldu. En çok tanı konulan KMH, mitokondriyal hastalıktı (8(%38)’i). 15 pediatri alt biriminin öncesi grupta 8, sonrası grupta 13’ünden amonyak tetkiki istendi. Öncesi grupta en çok amonyak istenen pediatri alt birimi Çocuk Nöroloji Polikliniğiydi (n=25 (%25,3)). Sonrası grupta en fazla amonyak istenen alt birim ÇMHK’ydi (68(%23,9)). İlk amonyak düzeyinin kontrol amonyak tetkiki istemedeki kestirim gücü için yapılan ROC analizinde eğri altında kalan alan 0,927, p değeri 0,001’dir. Kestirim değeri 60,3 µmol/l için duyarlılık %90,9, özgüllük %88,6 saptandı.
Sonuç: ÇMHK kurulduktan sonra, amonyak isteminin, başvuru çeşitliliğinin, KMH ve diğer tanıların artması, pediatristlerin hiperamonyemi farkındalığı üzerine ÇMHK’nin olumlu etkisi olduğunu göstermiştir.

Anahtar Kelimeler

Hiperamonyemi, amonyak, kalıtsal metabolik hastalıklar, pediatri

Evaluation of the Frequency of Blood Ammonia Test Requests in Clinic of Pediatrics Before and After the Establishment of the Department of Pediatric Metabolism

Öz

Background/Aims: Hyperammonemia causes severe mortality and morbidity when left unnoticed. We aimed to compare the number of ammonia test requests before and after establishing the Pediatric Metabolism Department (PMD) in a pediatric clinic.
Methods: The study was conducted retrospectively between 15/11/2022-16/11/2023. Study data were evaluated before (pre-group) and after (post-group) the establishment of PMD.
Results: Two hundred eighty-five admissions were assessed in the study. There were 99 admissions in the pre-group and 186 in the post-group. There were 17 admissions for different reasons in the pre-group and 29 in the post-group. The most common reasons for admission were elevated transaminases, seizures, vomiting, and metabolic acidosis. Definitive diagnosis was made in 16 (17.6%) patients admitted in the pre-group and 39 (23.8%) in the post-group. The most common diagnoses were genetic syndromes, mitochondrial diseases, and organic acidemias. Twenty-one patients were diagnosed with inherited metabolic diseases (IMDs). Mitochondrial diseases were the most commonly diagnosed IMD (8(38%)). An ammonia test was requested from 8 of 15 pediatric subunits in the pre-group and 13 in the post-group. In the pre-group, the pediatric subunit where ammonia was requested the most was the Pediatric Neurology Polyclinic (n=25 (25.3%)). In the post-group, the subunit that required the highest number of ammonia tests was the PMD (68(23.9%)). In the ROC analysis conducted for the predictive power of the initial ammonia level in requesting a control ammonia test, the area under the curve is 0.927, and the p-value is 0.001. For the cut-off value of 60.3 µmol/l, the sensitivity was 90.9%, and the specificity was 88.6%.
Conclusions: After the establishment of PMD, an increase in ammonia test requests, in the diversity of reasons for requesting ammonia testing from admissions, and in IMD diagnosis were detected, and the positive effect of PMD on pediatricians' awareness of hyperammonemia was found.

Anahtar Kelimeler

Hyperammonemia, ammonia, inherited metabolic diseases, pediatrics

Etik Beyan

The study was conducted according to the guidelines of the Declaration of Helsinki and approved by Selçuk University Faculty of Medicine Local Ethics Committee (Decision No: 2023/591, Date: 19/12/2023).

Kaynakça

• Savy N, Brossier D, Brunel-Guitton C, Ducharme-Crevier L, Du Pont-Thibodeau G, Jouvet P. Acute pediatric hyperammonemia: current diagnosis and management strategies. Hepat Med. 2018;10:105-115. Published 2018 Sep 12. doi:10.2147/HMER.S140711
• Hakvoort TB, He Y, Kulik W, et al. Pivotal role of glutamine synthetase in ammonia detoxification. Hepatology. 2017;65(1):281-293. doi:10.1002/hep.28852
• Wijdicks EF. Hepatic Encephalopathy. N Engl J Med. 2016;375(17):1660-1670. doi:10.1056/NEJMra1600561
• Ozanne B, Nelson J, Cousineau J, et al. Threshold for toxicity from hyperammonemia in critically ill children. J Hepatol. 2012;56(1):123-128. doi:10.1016/j.jhep.2011.03.021
• Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatr Clin North Am. 2018;65(2):231-246. doi:10.1016/j.pcl.2017.11.004
• Maranda B, Cousineau J, Allard P, Lambert M. False positives in plasma ammonia measurement and their clinical impact in a pediatric population. Clin Biochem. 2007;40(8):531-535. doi:10.1016/j.clinbiochem.2007.01.024
• da Fonseca-Wollheim F. Deamidation of glutamine by increased plasma gamma-glutamyltransferase is a source of rapid ammonia formation in blood and plasma specimens. Clin Chem. 1990;36(8 Pt 1):1479-1482.
• Howanitz JH, Howanitz PJ, Skrodzki CA, Iwanski JA. Influences of specimen processing and storage conditions on results for plasma ammonia. Clin Chem. 1984;30(6):906-908.
• Upadhyay R, Bleck TP, Busl KM. Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature. Case Rep Med. 2016;2016:8512721.
• Olde Damink SW, Jalan R, Dejong CH. Interorgan ammonia trafficking in liver disease. Metab Brain Dis. 2009 Mar;24(1):169-81.
• Ribas, G.S., Lopes, F.F., Deon, M. et al. Hyperammonemia in Inherited Metabolic Diseases. Cell Mol Neurobiol 42, 2593–2610 (2022). https://doi.org/10.1007/s10571-021-01156-6
• Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Metab. 2013;110(1-2):179-180. doi:10.1016/j.ymgme.2013.07.008
• Harthan A. A. (2018). An Introduction to Pharmacotherapy for Inborn Errors of Metabolism. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG, 23(6), 432–446. https://doi.org/10.5863/1551-6776-23.6.432
• Tokatli A. Dogustan Metabolik Hastaliklara Tanisal Yaklasim. J Curr Pediatr 2006;4.
• Önal, H. (2018). Doğumsal Metabolizma Bozukluklarına Yaklaşım. Klinik Tıp Aile Hekimliği, 10(4).
• Hismi B. Erişkin başlangıçlı kalıtsal metabolik hastalıklar: tek merkez deneyimi. Pam Tıp Derg. Temmuz 2021;14(3):692-705. doi:10.31362/patd.920049.
• Ali R, Nagalli S. Hyperammonemia. [Updated 2023 Apr 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557504/
• Häberle J. Clinical practice: the management of hyperammonemia. Eur J Pediatr. 2011;170(1):21-34. doi:10.1007/s00431-010-1369-2
• Auron A, Brophy PD. Hyperammonemia in review: pathophysiology, diagnosis, and treatment. Pediatr Nephrol. 2012;27(2):207-222. doi:10.1007/s00467-011-1838-5
• Rojas CR, Chapman J, Regier D. Hyperammonemia in the Pediatric Emergency Department. Pediatr Emerg Care. 2024;40(2):156-161. doi:10.1097/PEC.0000000000003121
• Tchan M. Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism. Rev Endocr Metab Disord. 2018;19(1):69-79. doi:10.1007/s11154-018-9444-5
• Long MT, Coursin DB. Undifferentiated non-hepatic hyperammonemia in the ICU: Diagnosis and management. J Crit Care. 2022;70:154042. doi:10.1016/j.jcrc.2022.154042
• Barsotti RJ. Measurement of ammonia in blood. J Pediatr. 2001;138(1 Suppl):S11-S20. doi:10.1067/mpd.2001.111832
• Ames EG, Luckritz KE, Ahmad A. A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism. Pediatr Nephrol. 2020 Sep;35(9):1761-1769. [PubMed]
• Camacho J, Rioseco-Camacho N. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. University of Washington, Seattle; Seattle (WA): May 31, 2012. [PubMed]
• Als-Nielsen B, Gluud LL, Gluud C. Nonabsorbable disaccharides for hepatic encephalopathy. Cochrane Database Syst Rev. 2004;(2):CD003044. [PubMed]