Niemann Pick Sendromlu bir hastada anestezik yaklaşım
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Date
2012-10-26
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Uludağ Üniversitesi
Abstract
Niemann Pick Sendromu (NPS), sfi ngomiyelin metabolizma bozukluğuna bağlı olarak lipozomlarda sfi ngomiyelin ve kolesterol depolanmasına bağlı genetik (otozomal resesif) geçişli bir hastalıktır. Klinik belirti ve bulgular arasında disfaji, motor fonksiyon kaybı, hepatosplenomegali, tekrarlayan solunum yolu enfeksiyonları, nöbet, mental retardasyon, spastisite, miyoklonik nöbetler ve ataksi bulunmaktadır fakat hastalığın tipine göre de değişiklik göstermektedir. Gözlenen patolojiye göre özel tedavi gerekmektedir. Bu grup hastada patolojinin yüksek prevalansından dolayı, çoğunlukla genel anestezi gerektiren cerrahi girişimlere ihtiyaç duyulmaktadır. NPS’lu hastalarda anestezistler bazı sorunlar yaşamaktadırlar. Bunlardan biri hepatosplenomegaliye bağlı ventilasyon, diğeri ise entübasyon zorluğudur. Ayrıca kronik antikonvülzan ilaç kullanımı bazı anestezik ilaç metabolizmalarını etkileyebilir. Karaciğer fonksiyon testleri yüksek, trombosit sayısı düşüktür. Burada nadir görülen bir hastalık olan Niemann Pick Sendrom’lu bir kız çocukta acil olarak uygulanan anestezi yaklaşımı, zorlukları ve post-op bakımı sunulmuştur. NPS’li hastalarda anestezistler ventilasyon ve entübasyon zorluğu yaşamaktadırlar. Bu durumda düşük tidal volüm ve yüksek frekans ile ventilasyon yapılması gerekir. Karaciğer hasarı yapabileceğinden anestezik ajanlar dikkatli kullanılmalıdır. Sonuç olarak, tüm bu patolojiler akılda tutularak bu hastalara anestezi yaklaşımda dikkatli olunmalıdır.
Niemann-Pick disease (NPD) is an autosomal recessive, lipid storage disorder caused by the defi ciency of the lysosomal enzyme sphingomyelinase or defective cholesterol transport from lysosome to cytosol. The clinical symptoms and signs include dysphagia, loss of motor function, hepatosplenomegaly, recurred respiratory infections, seizure, mental retardation, spasticity, myoclonic jerks and ataxia, but vary depending on the type of this disease. According to the observed pathology, patients require specialized therapy. Due to the high prevalence of the pathology in this group of patients, surgical interventions requiring general anaesthesia are common. Anesthetists have some diffi culties with this group of patients. One of them is diffi cult ventilation because of hepatosplenomegaly and the other is diffi cult intubation. The metabolism of some of the anesthetic agents may be affected due to chronic use of anticonvulsant agents. Liver enzymes are elevated and platelet counts are reduced. Here we report an anesthesia management, diffi culties and post-op follow up in a female child having NPD. Anesthetists have some diffi culties in ventilation and intubation with NPD patients. In this situation ventilation should be with low tidal volume and high frequency. Because anesthetic agents might cause liver damage, they should be used cautiously. As a result, with keeping mind all these pathologies, anesthesia management to these patients should be used cautiously.
Niemann-Pick disease (NPD) is an autosomal recessive, lipid storage disorder caused by the defi ciency of the lysosomal enzyme sphingomyelinase or defective cholesterol transport from lysosome to cytosol. The clinical symptoms and signs include dysphagia, loss of motor function, hepatosplenomegaly, recurred respiratory infections, seizure, mental retardation, spasticity, myoclonic jerks and ataxia, but vary depending on the type of this disease. According to the observed pathology, patients require specialized therapy. Due to the high prevalence of the pathology in this group of patients, surgical interventions requiring general anaesthesia are common. Anesthetists have some diffi culties with this group of patients. One of them is diffi cult ventilation because of hepatosplenomegaly and the other is diffi cult intubation. The metabolism of some of the anesthetic agents may be affected due to chronic use of anticonvulsant agents. Liver enzymes are elevated and platelet counts are reduced. Here we report an anesthesia management, diffi culties and post-op follow up in a female child having NPD. Anesthetists have some diffi culties in ventilation and intubation with NPD patients. In this situation ventilation should be with low tidal volume and high frequency. Because anesthetic agents might cause liver damage, they should be used cautiously. As a result, with keeping mind all these pathologies, anesthesia management to these patients should be used cautiously.
Description
Bu çalışma, 2012 Anestezi Kış Sempozyumunda poster olarak sunulmuştur.
Keywords
Niemann Pick Sendromu, Anestezik yaklaşım, Genel anestezi, Niemann Pick Disease, Anesthesia management, General anesthesia
Citation
Mercanoğlu, E. vd. (2013). "Niemann Pick Sendromlu bir hastada anestezik yaklaşım". Güncel Pediatri, 11(1), 42-44.