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Introduction Bacillus Calmette-Guerin (BCG) is the only tuberculosis vaccine available and although it has been routinely used for more than 80 years, its protective effect varies depending on the age and the form of tuberculosis. Due to the close analogy between the vaccine strain and other species of the Mycobacterium tuberculosis complex, molecular methods are recommended for differential diagnosis of post-BCG complications. The aim of the study was to assess usefulness of molecular methods in diagnosis of post-BCG vaccine adverse events (VAEs). Material and methods M. tuberculosis complex strains obtained in 2011-2017 from 68 ill children were subjected to molecular analysis. Results Molecular analysis of 68 strains showed 100% agreement between the results in the GenoType MTBC method and the multiplex PCR method. For the strains isolated from 45 patients with suspected VAE, M. bovis BCG was obtained, whereas the strains isolated from the remaining 23 children were identified as M. tuberculosis. The analysis confirmed the close relationship between the result of identification and the type of material as well as the patient's age. Conclusions The use of genetic methods enables quick and detailed diagnostics of infections caused by M. bovis BCG, which allows for the confirmation or exclusion of VAE.

INTRODUCTION Hypersensitivity pneumonitis (HP) is one of the most common forms of interstitial lung disease in children. Due to its common association with occupational environment, it used to be considered an exclusively adult disease; however, hypersensitivity pneumonitis also affects the paediatric population, and is often associated with exposure to antigens in the home environment and with the pastime activities of children. OBJECTIVE The aim of the study is to present the current state of knowledge on hypersensitivity pneumonitis in children with a focus on the peculiarities of diagnostic investigation and management of the disease in this age group. The study includes a case report of the disease in a child. STATE OF KNOWLEDGE In children, the most common factors causing HP are avian and fungal antigens present in the home environment. Diagnosis is based on the co-occurrence of characteristic clinical presentation, radiographic and pulmonary function tests findings, and a history of exposure to a potential triggering antigen. The main strategy in the management of HP is to eliminate the trigger factor with the use of a systemic corticosteroids therapy in severe or advanced cases. CONCLUSIONS Due to the risk of irreversible changes in the respiratory tract, an early diagnosis is very important. A quick identification of the trigger factor and its elimination from the patient's environment makes it possible to apply a less aggressive treatment, and to improve the patient's prognosis. Unfortunately, due to its infrequent occurrence, hypersensitivity pneumonitis is often not taken into account in a differential diagnosis of respiratory diseases in children, which leads to a delayed diagnosis despite the characteristic clinical presentation of the disease.

Pathogenic variants in genes encoding aminoacyl-tRNA synthetases cause numerous disorders characterized by involvement of neurons, muscles, lungs and liver. Recently, biallelic FARSB defects have been shown to cause severe growth restriction with combined brain, liver and lung involvement (Rajab interstitial lung disease [ILD] with brain calcifications). Herein, for the first time, we present a patient with similar condition associated with biallelic mutations in FARSA (NM_004461.3: c.766T>C:p.Phe256Leu and c.1230C>A:p.Asn410Lys). Both detected FARSA variants are ultrarare and predicted to be damaging by in silico programs. Furthermore, they are both located in the active site of phenylalanyl-tRNA synthetase (PheRS) with Asn410Lys directly affecting a residue forming the wall of the phenylalanine-binding pocket. Clinical features shared between our patient and the FARSB syndrome include ILD with cholesterol pneumonitis, growth delay, hypotonia, brain calcifications with cysts and liver dysfunction. Our findings indicate that a disease similar to a syndrome associated with FARSB defects can also be caused by biallelic FARSA mutations. These findings are consistent with molecular structure of PheRS which is a tetramer including both FARSA and FARSB proteins.

Od drugiej połowy XX wieku obserwuje się w Polsce systematyczny spadek liczby zachorowań na gruźlicę. Mimo to aktualne wskaźniki epidemiologiczne uzasadniają kontynuację powszechnych szczepień BCG w naszym kraju w najbliższych latach. Poza ochroną przed ciężkimi, krwiopochodnymi postaciami gruźlicy, szczepienie to zmniejsza ryzyko zakażenia prątkiem gruźlicy. Przeciwwskazania do szczepienia BCG to między innymi pierwotne i nabyte niedobory odporności, w tym zaburzenia immunologiczne związane ze stosowanym leczeniem. Do najczęstszych niepożądanych odczynów po szczepieniu BCG należą zmiany w miejscu szczepienia i zmiany odczynowe w lokalnych węzłach chłonnych, zazwyczaj niewymagające leczenia. Metody zapobiegania gruźlicy, szczególnie zalecane w krajach o niskiej zapadalności na tę chorobę, to: diagnostyka osób stykających się z chorym na gruźlicę płuc oraz aktywne wykrywanie i leczenie utajonego zakażenia prątkiem gruźlicy. Utajone zakażenie prątkiem gruźlicy rozpoznaje się na podstawie dodatnich wyników odczynu tuberkulinowego (OT) lub testu wydzielania interferonu gamma, po wykluczeniu gruźlicy aktywnej. Stan ten wymaga leczenia profilaktycznego.

Since the second half of the 20th century the incidence of tuberculosis has been declining in Poland. Despite this, current epidemiological data still support the need for the continued mass BCG vaccination in Poland in the near future. Apart from the protection against severe hematogenous forms of tuberculosis, vaccination lowers the risk of infection with Mycobacterium tuberculosis. Primary and acquired immunodeficiency, including immunity disorders associated with an ongoing treatment, are contraindications to BCG vaccination. The most common adverse effects following BCG vaccination are reactions at the site of injection and in regional lymph nodes, which usually does not require treatment. Methods of tuberculosis prevention, particularly recommended in low-incidence countries, include: diagnostic investigations of patients who had contacts with pulmonary tuberculosis as well as an active detection and treatment of latent Mycobacterium tuberculosis infection. Latent tuberculosis infection can be identified on the basis of positive results of the tuberculin skin test or interferon-gamma release assays after the active disease has been ruled out. This condition does require prophylactic treatment.

The prevalence of allergic diseases has reached epidemic proportions in the Western world. Although farm-living has been associated with a lower prevalence of asthma and atopy, a marked increase in atopy among rural populations after accession to the European Union has been recently reported in Poland. Here, we aimed to investigate the effect of living environment on the prevalence of atopy and allergic diseases in Polish children.400 schoolchildren aged 10-14 years from the capital city (223) and from traditional rural part of the country (177) were recruited from June to November 2011. Data on allergic diseases and symptoms were collected by means of questionnaire and physical examination. Atopy was assessed based on skin prick tests (SPTs) reactivity to inhalant allergens in 350 children.A high discrepancy between the prevalence of allergic symptoms (46.7%) and doctor-diagnosed allergic diseases (25%) was demonstrated (p0.0001). Urban children had a higher overall prevalence of allergic diseases and atopy than children living in rural areas, 29.3% versus 17.1% (p = 0.007) and 33.5% versus 20% (p = 0.0045), respectively. However, no significant differences in the rates of particular allergic diseases were noted (p0.05). There was higher SPT positivity to trees, grass, corn, weeds, animal dander, and molds in urban children (p0.05).Our data support the protective effect of farm-living on the prevalence of atopy and overall allergic diseases, albeit not on particular allergic diseases, in children in Poland. The underlying mechanisms are not identified, but current socioeconomic changes may be responsible.

Objectives To assess whether children ≤5 years of age, produce sufficient amounts of interferon gamma (IFN-ɣ) in response to phytohaemagglutinin (mitogen), and Mycobacterium tuberculosis antigens (TB antigens) in the QuantiFERON-TB Gold in-Tube test (QFT-GIT), (Cellestis Ltd., Australia). Working hypothesis Is TB-antigen-induced IFN-ɣ response in children ≤5 years sufficient to consider QFT-GIT a possible tool for TB diagnostics? Study design, patient-subject selection, and methods: We recruited children 0-17 years old suspected of TB infection to this cross-sectional study, in whom QFT-GIT and TST were performed. We analyzed the median IFN-ɣ levels in mitogen and TB antigen tubes in children ≤5 years and >5 years, and the correlation between IFN-ɣ level in both tubes and age. Results A total of 153 children were enrolled, age median was 7.8 (IQR:8), 45 (29.4%) aged ≤5 years (median 3.4, IQR:1.7), 108 > 5 years (median 10.55, IQR:5.93). In the mitogen tubes, the median IFN-ɣ level was higher in children >5 years (median 17.87, IQR:2.1 vs 16.77, IQR:7.6), but surprisingly in the TB antigen tubes it was higher in the younger group (median 0.12, IQR:0.21vs 0.06, IQR:0.09, P = 0.04). We proved a positive correlation between IFN-ɣ level and age in mitogen tubes (r = 0.18, P = 0.03) and a negative correlation in TB antigen tubes (r = -0.17, P = 0.04). In latent tuberculosis infection patients, the latter correlation was found to be even stronger (r = -0.39, P = 0.01). Conclusions The youngest children release sufficient amount of IFN-ɣ in response to TB antigens thus QFT-GIT might be a useful tool for TB diagnostics in this age group.

Children with nephrotic syndrome (NS) are at greater risk of infections than the general population, due to immunodeficiency in the course of the disease and the treatment. In this study we present 4 children (2 girls, 2 boys), mean age 7.6 ±5.1 years, with NS/proteinuria and latent tuberculosis in 3 children and lymph node tuberculosis in 1 child. The reasons for testing these children for tuberculosis (TB) were the evaluation of the epidemiological status before treatment with corticosteroids (GCS), leukopenia and the relapse of NS, and non-nephrotic proteinuria. The diagnosis of TB infection was based on positive IGRA (Interferon-Gamma Release Assay). Chest X-ray was normal in all the children. Chest CT scan revealed an enlargement of lymph nodes in 1 child. The children were treated with isoniazid (3 children) and isoniazid, rifampicin and pyrazinamide (1 child). Three children with idiopathic nephrotic syndrome were treated with prednisone. The child with non-nephrotic proteinuria was treated with enalapril. Proteinuria disappeared in all children during anti-TB treatment.

Plastic bronchitis (PB) is a rare disorder in children but a known complication of Fontan palliation. It is characterised by the formation of muco-cellular casts inside the tracheobronchial tree, which can cause recurrent life-threatening airway obstruction. Common presentation of PB includes atelectasis and dyspnea with potentially fatal outcome. The pathogenesis of this condition is not thoroughly understood. However, the abnormalities of lymphatic vessels may play a role. Various treatment strategies have been anecdotally reported but only few treatment options have been shown to be effective. Authors present a case of a five-year-old girl with Fontan physiology who developed plastic bronchitis. Symptoms occurred 15 months after third stage of correction. Treatment with mucoactive agents and inhaled bronchodilatators had no beneficial effect. A trial of inhaled alteplase was administered and resulted in a full symptomatic recovery. This kind of treatment is unregistered in Poland. The pathophysiology, clinical manifestation and therapeutic opportunities for PB in patients after cardiac surgeries have been reviewed.

Tuberculosis morbidity rates in Poland have been gradually decreasing. Nevertheless, there are approximately 8 thousand cases being registered annually, which includes almost 3 thousand massively infectious patients. In the last 3 years, around 100 cases/year have been reported among children below 14 years of age. Infection with Mycobacterium tuberculosis should be considered in all patients who present symptoms suggesting tuberculosis, have had recent contact with a person suffering from lung tuberculosis or are planned to undergo an immunosuppressive treatment. HIV infected patients are also supposed to have screening tests for M. tuberculosis infection performed. For over a 100 years tuberculin skin test (TST) was the only test capable of confirming tuberculous infection. TST is based on the assessment of skin reaction to intracutaneous injection of tuberculin. Due to cross-reaction to the injected tuberculin in BCG vaccinated individuals, the correct interpretation of the test is difficult. Since 13 years new immunological assays have been available. They are based on detecting interferon gamma (Interferon Gamma Release Assay - IGRA) concentration in blood serum, which has previously been incubated with Mycobacterium tuberculosis antigens absent in the BCG strain. In infected individuals interferon gamma is intensively produced by memory cells in reaction to the contact with previously met Mycobacterium antigens. Many trials have proved IGRA's high sensitivity and, higher than TST, specificity. Recent guidelines promote the usage of IGRAs, even in children.

Background: Neuroendocrine cell hyperplasia of infancy (NEHI) is an idiopathic interstitial lung disease (ILD) of childhood. HRCT is a gold standard in diagnosis of NEHI. As HRCT has some limitations, lung ultrasound (LUS) arouses great interest as an alternative imagine method in some pulmonary diseases in children. Objective: The study was aimed to evaluate the usefulness of LUS in diagnosis and monitoring of NEHI. Methods: This was a prospective study that included children with NEHI diagnosed between 2014 and 2015. In patients with NEHI LUS and HRCT was performed at baseline. Follow-up LUS was repeated after 6 and 12 months from the initial diagnosis. Control group underwent LUS at baseline. Results: Thirteen children with NEHI (11 boys, median age 13 months (8-47 IQR)) were included. The main USG findings were B-lines, pleural line irregularities and pleural line thickening. B-lines were found in 13 children (100%) from the study group and in 6 (46.2%) from the control group (p=0.002). The number of B-lines in all assessed lung areas was significantly higher in children with NEHI. The study groups differed significantly in terms of pleural line irregularities and pleural line thickening. ILD indices found in a quantitative CT analysis correlated significantly with the number of B-lines in every assessed area. We did not found significant changes in LUS abnormalities between baseline and follow-up assessment. Conclusions: Although LUS is sensitive in diagnosing lung involvement in NEHI, its diagnostic specificity is low and does not enable a reliable diagnosis of NEHI. It seems that LUS might be useful in following patients with NEHI, but longer observation is needed.

Streszczenie Kaszel jest jednym z najczestszych objawow zglaszanych lekarzowi pierwszego kontaktu. Wedlug wytycznych British Thoracic Society przewlekly kaszel mozna rozpoznac u dzieci, jeśli objaw ten trwa powyzej 8 tygodni. Moze wystepowac u dzieci ogolnie zdrowych po przebyciu niektorych ostrych infekcji drog oddechowych, ale moze byc rowniez glownym symptomem powaznych chorob ukladu oddechowego (kaszel swoisty). Znaczący problem stanowi rowniez tzw. izolowany kaszel nieswoisty – uporczywy, nieslabnący suchy kaszel u dzieci, u ktorych zarowno w badaniu przedmiotowym, jak i w podstawowych badaniach dodatkowych nie znajduje sie zadnych nieprawidlowości. Cel Analiza przyczyn kaszlu przewleklego u dzieci hospitalizowanych w Klinice Pneumonologii i Alergologii Wieku Dzieciecego WUM oraz ocena przydatności w praktyce klinicznej wytycznych BTS. Material i metody Badaniem objeto 105 dzieci, ktore zostaly przyjete do Kliniki w celu diagnostyki przewleklego kaszlu. Przeanalizowano dane anamnestyczne z badania przedmiotowego i wyniki szczegolowych badan dodatkowych i ustalono ostateczne rozpoznania. Wyniki Najczestszą przyczyną kaszlu u badanych dzieci byl tzw. kaszel z gornych drog oddechowych, ktory rozpoznano u 63 pacjentow, na drugim miejscu znalazl sie kaszel poinfekcyjny (27), nastepnie w kolejności malejącej: niedobor odporności (8), astma oskrzelowa (6), refluks zolądkowo-przelykowy(4), wada drog oddechowych i kaszel psychogenny (po 2), sarkoidoza (1). U 5 pacjentow rozpoznano rownolegle 2 przyczyny kaszlu, u 1 z dzieci – 3. Wnioski Najczestszą przyczyną kaszlu przewleklego (powyzej 8 tygodni) u dzieci jest kaszel z gornych drog oddechowych. Zalecenia BTS dotyczące diagnostyki kaszlu przewleklego u dzieci są przydatne w praktyce klinicznej.

Streszczenie Rozpoznawanie gruźlicy u dzieci jest bardzo trudne ze wzgledu na nietypowy przebieg choroby i skąpoprątkowośc. Bakteriologiczne potwierdzenie uzyskuje sie u okolo 30% chorych. Odczyn tuberkulinowy (OT), mimo pewnych ograniczen, pozostaje podstawowym narzedziem diagnostyki utajonego zakazenia prątkiem zjadliwym (gruźlicy latentnej). W ostatnich latach pojawily sie nowe nieinwazyjne metody IGRA (Interferon Gamma Release Assays). Umozliwiają one ocene wydzielania interferonu gamma przez uczulone komorki T po inkubacji ze swoistymi dla Mycobacterium tuberculosis antygenami. Charakteryzują sie one wyzszą niz OT swoistością. Zbyt mala liczba badan przeprowadzonych dotychczas nie pozwala jednak na ich wprowadzenie do rutynowej praktyki.