Danielius Serapinas

Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD

BACKGROUNDnAlpha1-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD.nnnMETHODSnA nationwide program of AAT deficiency was conducted in 1167 COPD patients, defined according to the GOLD criteria. Patients were collected from outpatient clinics in five different Lithuanian regions (Kaunas, Vilnius, Siauliai, Klaipeda and Alytus). AAT serum concentrations were measured by nephelometry; PI-phenotypes characterized by isoelectric-focusing.nnnRESULTSnMean age and FEV(1) were 62.0 (10.3) and 54.7% (10.9), respectively. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were identified. Calculated PI(*)S and PI(*)Z frequencies, expressed in per 1000, were 18.8 (95% CI: 13.9-25) and 25.3 (95% CI: 19.4-32.7), respectively. The calculated AAT gene prevalence (Hardy-Weinberg principle) was: 1/1.09 for MM, 1/28 for MS, 1/2814 for SS, 1/20 for MZ, 1/1049 for SZ and 1/1565 for ZZ. Calculated Odds ratio (OR) for PI(*)Z in COPD vs. Lithuanian healthy people was of 1.87 (P=0.004).nnnCONCLUSIONnThe OR for each genotypic class demonstrated a significant increase of MZ, SZ and ZZ genotypes in COPD patients. The results of the present study, with a significant number of ZZ individuals detected, support the general concept of targeted screening for AAT deficiency in countries like Lithuania, with a large population of COPD patients and low awareness among care-givers about this genetic condition.

Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

Dystrophic epidermolysis bullosa is an inherited disease presenting with blistering of the skin in the subdermal layer caused by gene COL7A1 mutations. The authors reviewed a case of this disease determined by two mutations: dominant and recessive. The disease presented with blisters all over the patient’s body, mostly on the neck, back, and inguinal area, as well as on the hands and feet. The symptom that most affected the patient’s quality of life was severe blistering and ulceration in the pharynx, mucous membrane of the mouth, and perianal area. There is no effective treatment today, only procedures to relieve complications like oesophageal obstructions. Streszczenie Postac dystroficzna pecherzowego oddzielania sie naskorka ( epidermolysis bullosa) to choroba dziedziczna objawiająca sie powstawaniem pecherzy na skorze, w warstwie podskornej wywolanym mutacjami genu COL7A1. W pracy przedstawiono przypadek tej choroby zdeterminowany dwoma mutacjami – dominującą i recesywną. Choroba objawila sie wystąpieniem pecherzy na calym ciele pacjenta, glownie na szyi, plecach, w rejonie pachwin oraz na rekach i stopach. Najwiekszy wplyw na jakośc zycia pacjenta mialo powstawanie uciązliwych pecherzy oraz owrzodzenie w obrebie gardla, blony śluzowej jamy ustnej oraz w rejonie odbytu. Obecnie nie ma skutecznej metody leczenia, stosuje sie jedynie zabiegi mające na celu zlagodzenie powiklan, takich jak niedroznośc przelyku.