Different features of lung involvement in Niemann-Pick disease and Gaucher disease

SummaryBackgroundNiemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD.ObjectivesWe tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement.MethodsWe reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients.ResultsThe most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient.ConclusionsLung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients

Assessment of Nutritional Status and Malnutrition in Patients with Cystic Fibrosis

Amaç: Kistik fibrozisli hastalarda malnütrisyon ve beslenme durumunun saptanmasıdır. Bireyler ve Yöntem: Kistik fibrozis tanısı ile izlenen 2-20 yaş arası 166 hastanın 24 saatlik geriye dönük besin tüketim kaydı BEBIS 7.2 programı, yaşa göre ağırlık (WAZ), yaşa göre boy (HAZ), boya göre ağırlık (WHZ) ve yaşa göre beden kütle indeksi (BKIZ) Z skorları WHO Anthro ve Anthro Plus programları kullanılarak değerlendirilmiştir. Bulgular: Hastaların %10.1inin WAZ, malnütrisyon olarak değerlendirilen -2SDnin altında, %21.0inin HAZ, bodur olarak tanımlanan -2SDnin altındadır. Hastaların %25.3ü sadece oral olarak normal besinler tüketmekte, %74.7si ise oral besinlere ek olarak oral enteral ürün kullanmaktadır. Hastaların %41inin sabah öğününü atladığı, en fazla atlanan öğünün her yaş grubunda sabah öğünü olduğu bulunmuştur. Hastaların %67sinin RDAya göre önerilen günlük enerji alımı yetersiz (%120), %69.5inin protein, %68.2sinin karbonhidrat ve %68.9unun yağ alımlarının yetersiz olduğu bulunmuştur. Hastaların enteral ürün ve besin alımı birlikte değerlendirildiğinde, %98.1inin A vitamini, %100ünün E vitamini, %82.3ünün K vitamini, %81inin folik asit alımı %55.4ünün niasin ve %50.6sının C vitamini alımlarının, %66.4ünün kalsiyum, %44.5inin demir ve %13.4ünün çinko alımlarının yetersiz olduğu saptanmıştır. Ayrıca hastaların %25.4ünün standart tedavi dışında bir hekim veya diyetisyenin önerisi olmadan besin desteği veya ürün kullandığı ve en yaygın kullanılan besin desteğinin omega-3 şurup (%9.0) olduğu saptanmıştır. Sonuç: Kistik fibrozisli hastalarda enerji dengesizliği, malabsorpsiyon, artmış metabolik hız nedeniyle malnütrisyon riski yüksektir.Aim: The aim of this study was to evaluate the nutritional status and malnutrition in children with cystic fibrosis. Subjects and Methods: A total of 166 patients with cystic fibrosis, aged 2-20 years were evaluated. A 24-hour dietary recall was calculated using BEBIS 7.2 programme, weight for age (WAZ), height for age (HAZ), weight for height (WHZ) and body mass index z scores (BMIZ) were evaluated using WHO Anthro and Anthro Plus programmes. Results: Out of total, 10.1% of patients were underweight (WAZ ≤-2SD), 21.0% of the patients were stunted (HAZ ≤2SD). 25.3% of the patients were on oral foods, 74.7% were on both oral foods and oral enteral feeds. 41% of the patients skipped the morning meal, the most skipped meal for all age groups was morning meal. When oral foods and enteral feeds were evaluated together, it was found that meeting the percentage of recommended dietay allowances (RDA) for energy, protein, carbohydrate and fat intakes were 67%, 69.5%, 68.2% and 68.9%, respectively (below the recommended level). Vitamin A, E and K intakes of 98.1%, 100%, and 82.3% of the patients were insufficient, respectively. It was found that 81%, 55.4% and 50.6% of the patients had insufficient dietary folic acid, niacin and vitamin C intakes. It was also seen that 66.4% of calcium intake, 44.5% of zinc intake and 13.4% of iron intake were inadequate. In addition, the standard of care of a physician or dietitian except it was found that 25.4% of patients using nutritional supplements or products without the advice. The most widely used feed supplement of omega-3 syrup (9.0%) were found to be. Conclusion: In patients with cystic fibrosis, malabsorption, energy imbalance, increased metabolic rate, are risks of malnutrition

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. (C) 2009 Wiley-Liss, Inc

Interferon-gamma assays for the diagnosis of tuberculosis infection before using tumour necrosis factor-alpha blockers

OBJECTIVES: Patients who receive tumour necrosis factor-alpha (TNF-alpha) blockers are mostly immunosuppressed. A study was performed to investigate whether an interferon-gamma (IFN-gamma) assay could rep-resent an alternative approach to the tuberculin skin test (TST) for the diagnosis of latent tuberculosis infection (LTBI) in these patients

Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis

Background Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population