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.

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.

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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0171-z) contains supplementary material, which is available to authorized users.

Background Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Methods The data were collected using a data‐entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively. Results There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo‐Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients. Conclusions Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.