Classical xanthinuria: a case report

Pürin metabolizmasının kalıtsal bir bozukluğu olan ksantinüri, ürolitiyazisin nadir görülen bir nedenidir. Üç aylıktan itibaren kum dökme ve kanlı idrar yapma yakınmaları olan, ilk kez 9 aylıkken anuri ve böbrek yetmezliği bulguları ile başvurduğu bir merkezde, her iki böbreğinde çok sayıda opak olmayan taşlar saptanarak çift taraflı perkütan nefrostomi açılan ve tekrarlayan nefrolitiyazis nedeniyle iki kez nefrolitotomi uygulanan olgu, 30 aylıkken hastanemize başvurdu. Yapılan metabolik tetkikler sonucu “ Klasik Ksantinüri “ saptanan olgu nadir görülmesi ve geç tanı almış olması nedeniyle sunulmuştur.Xanthinuria, an inherited disorder of purine metabolism, is a rare cause of urolithiasis. Our case presented with hematuria and crystalluria since 3 months of age. He had been hospitalized for the first time at 9 months of age with anuria and renal failure. Bilateral multiple nonopaque stones had been detected and he had undergone nephrolithotomy twice since then. He was admitted to our hospital when he was 30-months-old. He was screened for metabolic abnormalities and the diagnosis of classical xanthinuria was established. This case is reported because of it's rare occurence and of late diagnosis

A case of severe combined immunodeficiency

Ağır Kombine ımmün Yetmezlik Sendromu; T ve B lenfositler ile doğal öldürücü hücrelerin gelişim ve fonksiyonlarında bozukluk ile karakterize bir grup hastalığı temsil eder. Humoral ve hücresel immünitenin ağır bozukluğundan ileri gelen bu hastalıkta semptomların görülme yaşı değişmekle birlikte genellikle üçüncü ve altıncı aylar arasıdır. Kronik diyare, inatçı oral kandidiyazis, pnömoni, kronik otitis media, deri enfeksiyonları, sepsis gibi enfeksiyonlar sık görülür. Fırsatçı enfeksiyonlar özellikle akciğer ve karaciğerde uç organ zararı oluşturarak mortalite ve morbiditenin artmasına neden olur. Bu nedenle Ağır Kombine ımmün Yetmezlik Sendromu pediatrik aciller arasında yer almaktadır. Bu yazıda tekrarlayan akciğer enfeksiyonu ve yaygın mantar enfeksiyonu kliniği ile başvuran ve ağır kombine immün yetmezlik tanısı alan 5 aylık kız hasta sunulmaktadırSevere combined immunodeficiency (SCID) is a heterogeneous group of inherited disorders characterized by profound abnormalities in T, B and natural killer cell development and function, resulting in failure of both cellular and humoral immunity. The age of presentation is variable but occurs typically between 3 and 6 months. The major clinical manifestations include recurrent diarrhea, persistant oral candidiasis, pneumonia, recurrent otitis media, cutaneous fungal infections and sepsis. Opportunistic infection induced end organ damage, particularly to the lungs and liver, is associated with greatly increased morbidity and mortality. Therefore SCID has been described as a pediatric emergency. In this article a 5-month-old female infant admitted with the complaint of recurrent respiratory infections and disseminated fungal infections and diagnosed as severe combined immunodeficiency (SCID) is presented

Evaluation of renal near-infrared spectroscopy for predicting extubation outcomes in the pediatric intensive care setting

BackgroundIn pediatric intensive care units, extubation failure following invasive mechanical ventilation poses significant health risks. Determining readiness for extubation in children can minimize associated morbidity and mortality. This study investigates the potential role of renal near-infrared spectroscopy (RrSO2) in predicting extubation failure in pediatric patients.MethodsA total of 84 patients aged between 1 month and 18 years, mechanically ventilated for at least 24 h, were included in this prospective study. RrSO2 levels were measured using near-infrared spectroscopy before and during an extubation readiness test (ERT). The primary outcome measure was extubation failure, defined as a need for reintubation within 48 h.ResultsOf the 84 patients, 71 (84.6%) were successfully extubated, while 13 (15.4%) failed extubation. RrSO2 was found to be lower in the failed extubation group, also decrease in RrSO2 values during ERT was significantly greater in patients with extubation failure. ROC analysis indicated a decrease in ΔRrSO2 of more than 6.15% from baseline as a significant predictor of extubation failure, with a sensitivity of 0.984 and a specificity of 0.889.ConclusionMonitoring changes in RrSO2 values may serve as a helpful tool to predict extubation failure in pediatric patients. Further multi-center research is warranted to improve the generalizability and reliability of these findings

A Comparison of Intravenous Levetiracetam and Valproate for the Treatment of Refractory Status Epilepticus in Children

Because of the lack of studies comparing the efficacy and safety of levetiracetam and valproate before the induction of general anesthesia in the treatment of convulsive refractory status epilepticus in children, we aimed to compare the effectiveness of these antiepileptic drugs in patients with convulsive status epilepticus admitted to the Pediatric Intensive Care Unit between 2011 and 2014. Forty-six (59%) of the 78 patients received levetiracetam, and 32 (41%) received valproate for the treatment of refractory status epilepticus. The response rate was not significantly different between the 2 groups. Although no adverse event was noted in patients who received levetiracetam, 4 (12.5%) patients in the valproate group experienced liver dysfunction (P = .025). According to our results, levetiracetam and valproate may be used in the treatment of refractory status epilepticus before the induction of general anesthesia. Levetiracetam appears as effective as valproate, and also safer