Sevgi Pekcan

Gorham-Stout Syndrome with chylothorax: successful remission by interferon alpha-2b.

Gorham–Stout syndrome is a rare disease and most often recognized in children and young adults. Chylothorax is a serious complication of Gorham–Stout syndrome. The treatment of either Gorham–Stout syndrome or chylothorax is still a dilemma. We described a 9‐year‐old girl with Gorham–Stout syndrome and chylothorax who was admitted to our hospital because of dyspnea, orthopnea, and bone pain, and treated with interferon alpha‐2b. Pediatr Pulmonol. 2009; 44:613–615.

An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients

A total of 57 episodes of PBS were found in 43 CF patients between January 1989 and November 2005 in our center [4, 6]; of these, nine occurred between August 15 and August 31, 2006. The demographic features and laboratory characteristics of these nine CF-PBS patients are given in Table 1. All patients, with the exception of patient no. 8, who was newly diagnosed, had been admitted prior to these dates with PBS. Eight patients were using oral salts, as recommended. A 23-month-old-boy died 6 h after admission despite intensive therapy. While between 1975–2005 the mean air temperature in August in the Ankara region was 22.9°C (range: 7.2– 37.2°C), in August 2006, it was 27.2°C (range: 14.6°C– 38°C). August 2006 was the hottest August since 1975 (http://www.meteor.gov.tr).

TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis.

The incidence of cystic echinococcosis (CE) due to Echinococcus granulosus is as high as 2000-2500 patients per year in Turkey. Whether genetic characteristics of the Turkish population cause a tendency to the disease is currently unknown. We aimed at studying the role of TAP gene polymorphisms in Turkish children with cystic echinococcosis. For an overview of allelic distribution of TAP1 and TAP2 genes, genotypes of 85 patients with CE and 100 controls were studied. To determine the genotype-phenotype correlation, 81 of the patients whose clinical data were available were analyzed. For TAP1-637, Asp/Gly heterozygosity was significantly more prevalent in CE patients than in controls (20 vs. 4%, odds ratio 6.0), while Gly/Gly homozygosity was less frequent (5 vs. 14%). For TAP2-379, Ile/Val heterozygosity was significantly more prevalent in CE patients than in controls (14 vs. 1%, odds ratio 16.27), while Ile/Ile homozygosity was less frequent (13 vs. 25%). TAP1-637 and TAP2-379 polymorphisms may have a role in causing genetic tendency for CE in children. The data may reflect the genetic properties of the Turkish population or may reveal the minor role of TAP gene polymorphisms in CE.

A 4-month-old boy with acrodermatitis enteropathica-like symptoms

A 4-month-old boy was admitted for having diffuse eruption in the perianal region, legs, trunk hands, and face with failure to thrive, edema, hypoalbuminemia, and anemia. The patient was thought to have acrodermatitis enteropathica-like eruption due to malabsorption. The eruption completely resolved with enzyme supplement and proper nutrition and skin care.

Does Defective Apoptosis Play A Role in Cystic Fibrosis Lung Disease

BACKGROUND AND AIMS Although apoptotic dysfunction has recently been suggested in cystic fibrosis (CF), there are few studies reported concerning apoptosis in CF with controversial results. The aim of this study was to investigate apoptosis in CF human lung tissues and compare with non-CF bronchiectatic and normal healthy lung tissues. We also investigated the relation between apoptosis and histopathological features of tissues and microbiological factors influencing apoptosis. METHODS Lung tissue samples from CF (n=30), non-CF bronchiectasis (n=28, BE group) and normal control cases (n=24, C group) were included in the study. Histological examination of H & E-stained archived slides was performed and TUNEL method was used to detect DNA fragmentation. RESULTS Apoptotic alveolar epithelial cells were significantly increased in the CF group compared to BE and C groups (p=0.046). Bronchopneumonia (BP) was present in 15 CF cases (50%), whereas none of the cases in C group had BP (p=0.0001). Apoptosis was significantly increased in cases with BP (n=17) compared to cases without BP (n=65) (p=0.04). CONCLUSIONS Apoptotic epithelial cells and BP were significantly increased in the CF group and excess level of apoptosis may be the result of enhanced occurrence of BP. Apoptotic cells were alveolar epithelial cells in the great majority of the patients and were not detected in other locations where CFTR expression is much more prominent than alveolar cells. We may postulate that increased apoptotic findings in the alveolar epithelium were related with the presence of chronic infections rather than CFTR dysfunction.

A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis.

Congenital unilateral absence of a pulmonary artery is a rare anomaly most frequently accompanied by other cardiovascular anomalies. We report a 10-year-old girl presenting with fatigue and recurrent hemoptysis who was initially misdiagnosed with idiopathic pulmonary hemosiderosis. Her symptoms did not resolve despite treatment so she was referred to our center for further evaluation. We carried out an angiography which revealed the absence of the right pulmonary artery and multiple collaterals originating from the right subclavian and right internal mammary arteries supplying the right lung. During the follow-up the patient developed a severe episode of pulmonary infection and pulmonary hypertension which responded well to medical treatment. Physicians should be aware of the congenital absence of the right pulmonary artery especially in patients presenting with recurrent respiratory symptoms. Although this condition is generally considered to have a good prognosis, close observation is mandatory in order to prevent further complications and comorbidities.

Doll-like face: is it an underestimated clinical presentation of cystic fibrosis?

Cystic fibrosis (CF) is the most prevalant inheritable chronic disease in caucasian children. The clinical syndrome of kwashiorkor is well‐recognized complication of CF. The edema of the face can be seen in kwashiorkor. As doll‐like face is very rare and underestimated clinical presentation of CF patients complicated with hypoproteinemia we evaluated demographic features and laboratory characteristics of 5 patients diagnosed as CF with doll‐like face. Methods: Between June 2005 and January 2008, 115 children were diagnosed as having CF enrolled in our center. Five infants were diagnosed as CF with doll‐like face before the age of 6 months participitated in study. Results: The incidence of doll‐like face younger than the 6 months of age were 9.4% in our center. 48 infants diagnosed as CF without doll‐like face before the age of 6 months participitated in the study as controls (group2). Physical examination revealed doll‐like face and pitting edema of lower extremities in group 1. Their weight and length were under the third centile. Laboratory findings of group 1 include: mean hemoglobin 7.6g/dl; mean total protein 4.4 g/dl; albumin 2.3 g/dl. When compared control group in order to; 11.4 g/dl (range 7.6–17.9); 6.2 g/dl (range 4.0–8.8); 4.7 g/dl (range 2.1–5.8). mean hemoglobin, total protein and albumin values were lower in group 1. Conclusion: In a subgroup of patients, doll‐like face may be the presenting manifestation of CF. Especially in developing countries clinicians should be aware of in patients with malnutrition and doll‐like face and CF should be considered in differential diagnosis. Pediatr Pulmonol. 2008; 43:634–637.

Psychiatric morbidity and quality of life in children and adolescents with cystic fibrosis

Şenses-Dinç G, Özçelik U, Çak T, Doğru-Ersöz D, Çöp E, Yalçın E, Çengel-Kültür E, Pekcan S, Kiper N, Ünal F. Psychiatric morbidity and quality of life in children and adolescents with cystic fibrosis. Turk J Pediatr 2018; 60: 32-40. The aim of this study was to investigate psychiatric disorders, depression and anxiety levels, and quality of life in children and adolescents with cystic fibrosis (CF), and to compare them with those of children with non-cystic fibrosis (non-CF) bronchiectasis and healthy controls. A total of 103 children and adolescents aged 7-16 years (35 CF, 28 non-CF bronchiectasis, 40 healthy) were evaluated using The Schedule for Affective Disorders and Schizophrenia for School Aged Children (K-SADS), The Child Depression Inventory (CDI), The State-Trait Anxiety Inventories for Children (STAI-C) and the Pediatric Quality of Life Inventory (PedsQL)-C. The three groups were not statistically different with respect to age, sex, and familial sociodemographic variables. 80% of the children and adolescents in the CF group were diagnosed with a psychiatric disorder, which was significantly more compared to those of the two other groups. The CF group had significantly greater rates of depressive and oppositional defiant disorder and the non-bronchiectasis group had a significantly greater rate of anxiety disorder than the control group. The depression and anxiety symptom levels were significantly greater and the quality of life levels significantly lower in both the CF and non-CF bronchiectasis groups than the healthy controls. In the CF group, the presence of any associated psychiatric disorder led to significantly lower total and psychosocial quality of life scores. In conclusion, CF is associated with poorer QOL in childhood. In order to improve quality of life in CF, the psychiatric conditions of children and adolescents should also be evaluated and their follow-up and treatment should involve a multidisciplinary team approach.

Successful Therapy with intravenous gamma globulin in two children with postinfectious bronchiolitis obliterans

How to cite this article: Pekcan S, Gökturk B, Reisli I. Successful Therapy with intravenous gamma globulin in two children with postinfectious bronchiolitis obliterans. J Pulmonol Respir Res. 2017; 1: 009-012. https://doi.org/10.29328/journal.jprr.1001003 Bronchiolitis obliterans (BO) is an infrequent clinical syndrome characterized by the chronic obstruction of small airways due to ibrosis [1]. Intravenous immunoglobulin (IVIG) could be used for treatment while underlying immune mechanisms in the pathogenesis of BO exist [2]. Here, we present two children with BO due to adenovirus infection whose complaints resolved after IVIG replacement.

Cystic echinococcosis mimicking tuberculosis in childhood

Both cystic echinococcosis (CE) and tuberculosis (Tbc) are important health problems in developing countries. Pulmonary CE and Tbc have to be differentiated from other diseases as they have increased the risk of morbidity and mortality. Besides, these two diseases can mimic each other. Here, we discuss a 7 year-old patient admitted with fever, cough who was unresponsive to nonspecific antibiotic treatment given for pneumonia, had Tbc treatment due to a positive tuberculin skin test and radiologic appearance consistent with Tbc and on follow-up. He was eventually diagnosed as CE based on a cystic lesion consistent with CE in the liver and echinococcosis specific IgE positivity and was succesfully treated with anti-parasitic therapy.