Pulmonary Alveolar Proteinosis in Hereditary and Autoimmune Forms With 2 Cases.

Pulmonary alveolar proteinosis (PAP) is a respiratory pathology characterized by the accumulation and increase of surfactant-derived material in the lungs. In clinical practice, PAP may present as the primary form, which includes autoimmune and hereditary PAP, or as the secondary form. Diffuse alveolar radiopacities on chest x-ray and the crazy-paving pattern on high-resolution computed tomography are important, although not specific findings for PAP. Bronchoalveolar lavage biopsy is a diagnostic method, and whole-lung lavage remains the criterion standard for the treatment of PAP. Evidence is required regarding treatment with exogenous anti-granulocyte/macrophage colony-stimulating factor.Here, we present a 13-year-old male patient with hereditary PAP and a 15-year-old female patient with autoimmune PAP who presented with complaints of easy fatigability and weakness to emphasize the importance of keeping in mind PAP as a differential diagnosis in patients with respiratory failure findings.

Efficacy of allergen-blocker mechanical barrier gel on symptoms and quality of life in patients with allergic rhinitis.

PROPOSE: Allergic rhinitis (AR) is a very common, chronic and global health problem. In the last two decades, the efficiency of barrier-enforcing measures in AR has been investigated. In this study, we aimed to evaluate the effect of allergen-blocker mechanical barrier gel (MBG) (AlerjiSTOP®) treatment on symptoms and quality of life score (QoLS) in patients with seasonal and perennial allergic rhinitis. METHODS: A single-center, prospective study was conducted between January 2017 and May 2018. Patients diagnosed with allergic rhinitis with a visual analogue scale (VAS) of 5 or higher (moderate/severe) were enrolled in the study. Patients were evaluated in terms of VAS, nasal symptom score (NSS), ocular symptom score (OSS), total symptom score (TSS) and QoLS at baseline, 1 week and 1 month of MBG treatment. RESULTS: A total of 83 patients with AR were enrolled in the study. Clinical and laboratory examinations showed that 50 (60.2%) patients were mono-sensitized. Allergen-blocker mechanical barrier gel treatment was performed as monotherapy in 22 (26.5%) patients. Median VAS, NSS, OSS and TSS decreased from 7 to 4, 8 to 3, 4 to 0 and 12 to 4, respectively (p < 0.0001). Correlation analysis revealed positive correlations between lower pediatric rhinoconjunctivitis quality of life questionnaire scores for patients under 12 years of age and decrease in VAS, NSS and TSS (r = 0.380, p = 0.008; r = 0.544, p < 0.0001; r = 0.543, p < 0.0001). Positive correlations were detected between lower rhinoconjunctivitis quality of life questionnaire (self-administered) scores for patients ≥ 12 years of age and decrease in VAS, NSS, OSS and TSS (r = 0.703, p < 0.0001; r = 0.465, p = 0.005; r = 0.526, p = 0.001; r = 0.624, p < 0.0001). CONCLUSION: In conclusion, we found significant decrease in all symptom scores and improvement in QoLS of patients treated with MBG as monotherapy and combination therapy.

Severe renal osteodystrophy in a pediatric patient with end-stage renal disease: Sagliker syndrome?

Renal osteodystrophy (ROD) is a multifactorial disorder of bone metabolism in chronic kidney disease (CKD). As CKD progresses, ensuing abnormalities in vitamin D metabolism and parathyroid hormone (PTH) secretion result in distortions in trabecular microarchitecture, thinning of the cortical shell, and increased cortical porosity. The recently described Sagliker syndrome (SS) might be an exaggerated version of ROD and is a very striking and prominent feature of secondary hyperparathyroidism in patients with end-stage renal disease (ESRD). It includes a distorted facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissue tumors in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurologic and psychological problems. We herein describe an affected 14-year-old girl with severe ROD resulting from ESRD, who had severe peripheral and central neurologic problems caused by bone deformities, mimicking the features of Sagliker syndrome.