Study of the patients with Henoch-Schönlein purpura found in kirikkale region in terms of clinical retention and research of microalbuminuri presence and FMF gene association

YÖK Tez ID: 271812Henoch-Schönlein purpurası çocukluk çağının en sık görülen akut, sistemik vasküliti olup palpabl purpura, artrit ve/veya artralji, abdominal ağrı, gastrointestinal kanama ve glomerulonefrit ile karakterizedir.HSP her yaşta ortaya çıkabilirse de en sık 3-15 yaşları arasında ve erkeklerde kızlardan 1.5-2 kat fazla görülür. Toplumdaki insidansı 10-20.4/100.000 olarak tahmin edilmektedir.Çalışmamızda Şubat 2007-Mayıs 2010 tarihleri arasında Kırıkkale Üniversitesi Tıp Fakültesi Çocuk Kliniği`ne başvurarak Henoch-Schönlein purpurası tanısı aldıktan sonra Çocuk Nefroloji polikliniğinde düzenli olarak izlenmiş 42 olgu genel özellikleri, mikroalbüminüri ve MEFV gen mutasyonları açısından incelendi.24 (%57,1)'si kız, 18 (%42,9)'si erkek olup erkek / kız oranı 0,75 olarak tespit edildi. Olguların yaşları 4 ile 14 arasında değişmekte olup ortalama yaş 8,42±2,69 bulundu.Hastalığın en ciddi bulgusu olan renal tutulum olguların %25,6'sında tespit edildi. Renal tutulum olguların tamamında ilk 3 ay içinde ortaya çıkmıştı.HSP'nin FMF ile birlikteliği bilinmektedir. Çalışmamızda 12 (%30,7) olguda MEFV gen mutasyonu saptanmıştı. E148Q, M694V ve M680I (G/C) mutasyonları en sık görülen mutasyonlardı. Mutasyon olan grupla mutasyon olmayan grup arasında yaş, cinsiyet ve klinik tutulum açısından anlamlı farklılık saptanmasa da sedimentasyon ve CRP yüksekliği açısından anlamlı düzeyde farklılık saptandı. HSP`lı hastalarımızda saptanan gen mutasyonları hastalık gelişiminde önemli bir predispozan olarak düşünülmektedir.Renal tutulum olmayan 32 olgudan 2 (%6,2) olguda mikroalbüminüri görülmüştü. Henoch-Schonlein purpurası çoğunlukla kendini sınırlayan bir hastalık olsa da renal tutulum prognozu belirleyen en önemli faktördür. HSP başlangıcında henüz klinik olarak görünür bir böbrek bulgusu gelişmese de immün kompleksler sonucu böbreklerde rutin yöntemlerle gösterilemeyen bir hasar olabileceğini belirlemek önemlidir ve bu amaçla mikroalbüminüri ölçümü yapılması klinik anlam taşıyabilir.Anahtar Kelimeler:Henoch-Schönlein purpurası, Mikroalbüminüri, Ailevi Akdeniz Ateşi, MEFV gen mutasyonu, ÇocukHenoch-Schönlein purpura is one of the most acute, systemic vasculitides of childhood and it is characterized with palpable purpura, arthritis and/or arthralgia, abdominal pain, gastrointestinal bleeding and glomerulonefrit.Despite HSP might emerge at any age, it is mostly seen between the ages of 3-15 and it occurs about 1.5, 2 times as often in boys than in girls. Incidence in the society is estimated at 10-20.4/100.000.In our study 42 cases, who applied to Kırıkkale University School of Medicine Department of Pediatrics between February 2007 and May 2010 and followed regularly in Pediatric Nephrology Polyclinic upon being diagnosed with Henoch-Schönlein purpura, were examined in terms of general characteristics, microalbuminuri and MEFV gene mutations.24 (57,1 %) of the patients were female and 18 (42,9 %) were male; male/female ratio is determined as 0,75. Ages of the cases differ between 4 and 14 and the average age is determined as 8,42±2,69.Renal retention, which is the most severe symptom of the disease was determined in 23,8 % of the cases. Renal retention emerged in all cases within the first 3 months.The association of HSP and FMF is not known. In our study MEFV gene mutation was determined in 12 (28,6 %) cases. E148Q, M694V and M680I(G/C) mutations were the most frequent mutations. Gene mutations found in our patients with HSP are considered as an important predisposing in disease development.Microalbuminuri was observed in 2 (6,2 %) cases out of 32 cases that did not have renal retention. Even though Henoch-Schonlein purpura is mostly a self-limiting disease, renal retention is the most important factor determining prognosis. Despite clinically visible nephrotic symptom is not developed at the beginning of HSP, it is important to note that a damage which cannot be determined via routine methods might occur in the kidneys due to immune complexes and accordingly microalbuminuri measurement might be clinically meaningful.Key words: Henoch-Schönlein purpura, Microalbuminuri, Familial Mediterranean Fever, MEFV gene mutation, Chil

Kırıkkale yöresinde saptanan Henoch Schönlein Purpuralı hastaların klinik tutulum yönünden incelenmesi ve mikroalbüminüri varlığı ile FMF Gen birlikteliğinin araştırılması

Tez (Tıpta Uzmanlık) -- Kırıkkale Üniversitesi78658

A Case of Fatal Malignant Hyperthermia During Pes Equinovarus Surgery in a Child

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In developed countries, trauma is the most common cause of mortality and morbidity in children. Severe traumatic brain injury is the most important cause of death in these patients. The main goal of treatment is to provide airway, respiratory and circulatory support and to prevent increased intracranial pressure. An 8-year-old girl with a severe traumatic brain injury due to traffic accident was admitted. The patient had a Glasgow Coma scale score of 8. She was intubated and provided respiratory and hemodynamic support. Cranial tomography showed bilateral diffuse frontal hemorrhagic contusion areas, traumatic subarachnoid hemorrhage, a slim subdural hemorrhage, basal cistern effacement, and severe brain edema with a midline shift to the left of 1 cm. Mannitol, 3% sodium chloride and phenytoin were given to the patient. At the 4th hour of the follow-up in pediatric intensive care, decompressive craniectomy was performed because the patient developed clinical herniation findings. The patient was extubated on the 3rd day and discharged on the 13th day. She did not have any neurological sequelae at 6 months of follow-up. Decompressive craniectomy should be considered without delay in children with severe head trauma with neurological deterioration or intracranial pressure elevation refractory to medical treatment and in those with herniation

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