Güzin Cinel

Long-term results of disodium etidronate treatment in pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease with alveolar microliths mainly composed of calcium phosphate. The gene responsible for the disease is SLC34A2, which encodes a type‐IIb sodium phosphate cotransporter, has been described recently. Treatment of this disease is not clearly defined. Disodium etidronate is a member of bisphonates and it has been administered in these patients due to its inhibitory effect on the precipitation of hydroxyapatite microcrystals. Here, clinical and radiological improvement of two patients with PAM who were treated with disodium etidronate for 9 and 11 years, respectively, are presented. The pathogenetic mechanism of this treatment on the genetic basis of disease is discussed. Pediatr Pulmonol. 2010; 45:514–517.

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

BACKGROUND Niemann-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. OBJECTIVES We tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement. METHODS We reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients. RESULTS The 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. CONCLUSIONS Lung 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.

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

BackgroundJuvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.MethodsWe identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatment were evaluated and correlated to the genotype. Functional impairment of the intracellular JAK/pStat5 signaling pathway was assessed using flow-cytometry of peripheral mononuclear cells (PBMC) and granulocytes.ResultsWe identified six individuals with homozygous missense/nonsense/frameshift mutations and three individuals homozygous for a deletion of the complete CSF2RA gene locus. Overall, four novel mutations (c.1125 + 1G > A, duplication exon 8, deletion exons 2–13, Xp22.3/Yp11.3) were found. Reduced STAT5 phosphorylation in PBMC and granulocytes was seen in all cases examined (n = 6). Pulmonary symptoms varied from respiratory distress to clinically silent. Early disease onset was associated with a more severe clinical phenotype (p = 0.0092). No association was seen between severity of phenotype at presentation and future clinical course or extent of genetic damage. The clinical course was favorable in all subjects undergoing whole lung lavage (WLL) treatment.ConclusionsOur cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP, and illustrates the favorable outcome of WLL treatment in severely affected patients.

Idiopathic interstitial pneumonias: Diagnosis, treatment and follow-up

tissue in the neighborhood of esophagus was detected. It was seen that the bottom of the cyst has extended to on the arch aortic and the cyst was connected to the esophagus muscular layer with the tight connective tissue. Microscopic appearance of lesion, smooth muscle tissue with double row in the wall of cystic tissue whose inner surface is paved with silial cylindrical epithelium, mononuclear inflammatory cells in these regions, congested vasculars are seen and these are found compatible with the esophageal cyst. The patient’s breathing and wheeze do not occur again after the operation. Although the diagnosises of asthma which do not heal and not respond the bronchodilator treatment in infant do not occur frequently, mediastinal masses should be kept in mind.