Şahin Takcı

Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever

The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status. The most common symptom was abdominal pain (99%, n = 197). The most frequent mutations were M694V and R202Q. Chest pain was reported more often in patients homozygous for M694V (61.4%). Although fever, abdominal pain, and arthritis were more commonly observed with the M694V mutation, chest pain was the most common symptom in R202Q carriers (n = 10, 32.3%). Proteinuria was observed in 42 (21.2%) patients, frequently accompanied by the M694V mutation (28.6%). The most common mutations in children with FMF in Turkey were M694V and R202Q. Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. Moreover, chest pain was commonly seen with the R202Q mutation. Thus, R202Q might be a disease-causing mutation in FMF patients.

A rare large mutation involving two exons of the sp-b gene in an infant with severe respiratory distress

Takcı Ş, Anuk-İnce D, Louha M, Couderc R, Çakar N, Köseoğlu RD, Ateş Ö. A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress. Turk J Pediatr 2017; 59: 483-486. Hereditary surfactant protein-B (SP-B) deficiency is a rare autosomal recessive disease of newborn infants causing severe respiratory failure and death within the first year of life. The most common cause of SP-B deficiency is a frameshift mutation in exon 4 (121ins2) in the gene encoding SP-B. We report a term infant with unremitting respiratory distress who was unresponsive to all treatment modalities. The parents were consanguineous and a term sibling of the infant had died due to respiratory failure without a certain diagnosis. In the first step of the diagnostic work-up, common genetic mutations for SP-B, surfactant protein C and ATP-binding cassette s3 were absent, however sequencing of SP-B gene revealed a large homozygous genomic deletion covering exon 8 and 9. In this case report, we aimed to emphasize further genetic evaluation in all cases suggestive of surfactant dysfunction, even if common mutations are absent.

Prevalence of Proteinuria in School-Aged Turkish Children, and Its Association with Obesity and Hypertension

The Journal of Pediatric Research, published by Galenos Yayınevi. Ad dress for Cor res pon den ce/Ya z›fl ma Ad re si Ali Gül MD, Gaziosmanpaşa University Faculty of Medicine, Department of Pediatrics, Tokat, Turkey Phone: +90 505 347 29 61 E-mail: draligul@yahoo.com ORCID ID: orcid.org/0000-0001-5350-2192 Re cei ved/Ge liş ta ri hi: 10.07.2017 Ac cep ted/Ka bul ta ri hi: 05.09.2017 Okul Çağı Türk Çocuklarında Proteinüri Sıklığı ve Obezite ve Hipertansiyonla İlişkisi

Çok düşük doğum ağırlıklı bir bebekte konjenital iktiyoz

Iktiyozlar klinik ve etiyolojik olarak hererojen derinin bir grup kalitsal keratinizasyon bozuklugudur. Yaygin cilt kurulugu, ciltte soyulma ve pullanma, bazen eritrodermi ve histopatolojik olarak hiperkeratoz ile karakterizedir. Iktiyozis vulgaris ve X’e bagli iktiyoz, iktiyozun en yaygin gorulen tipleridir. Konjenital iktiyozlar daha seyrek gorulur. Lameller iktiyoz, konjenital iktiyoziform eritrodermi ve harlequin iktiyozu konjenital iktiyozlar arasinda yer alir. Lamellar iktiyoz genelikle dogumda mevcuttur ya da kisa bir sure sonra baslar. Bebekler tum vucudu kaplayan parsomen kagidi benzeri yapisi olan seffaf bir membranla (kollodion zar) dogarlar. Dehidratasyon, sepsis, elektrolit dengesizligi ve pnomoni gibi komplikasyonlarin onlenmesi sag kalim acisindan buyuk onem tasir. Tedavideki temel amac sivi kaybinin onlenmesi, derinin nemlendirilmesi ve stratum korneumun yumusakliginin saglanmasidir. Sundugumuz olgumuzda klinik ozellikleri ile lameller iktiyoz tanisi konulan cok dusuk dogum agirlikli premature bebek sadece topikal ajanlarla basari ile tedavi edilmistir. Bu vaka nedeni ile konjenital iktiyozlu premature bebeklerin yenidogan yogum bakim unitesindeki bakimi gozden gecirilmistir.