Maturity onset diabetes of the young (MODY) belongs to the group of diseases which have monogenic, autosomally dominant inheritance and manifests as a diabetes of forward onset (revealing itself before the age of 25). The most common forms are: a mutation of hepatocyte nuclear factor 1α (HNF) called MODY 3 and a mutation within glucokinase (GCK) gene called MODY 2. The patients with MODY are often initially classified as a diabetes type 1 or a diabetes type 2. We are introducing 3 patient cases of MODY 2 and 2 patient cases of MODY 3 diagnosed and treated in the Department of Paediatrics, Endocrinology and Diabetology of Provincial Children's Hospital in Bydgoszcz. Characteristic clinical picture, familial appearance of diabetes, a lack of immune background and a mild course of the disease has drawn suspicion about different type of diabetes. The evidence of genetic background of diabetes has given an opportunity to modify treatment whether for diagnosed patients or their relatives. A proper recognition of MODY determines an optimal treatment and forecast prognosis for the possible future complications.
K Ke ey y w wo or rd ds s: : celiac disease, Down's syndrome, incidence, screening. S Sł ło ow wa a k kl lu uc cz zo ow we e: : choroba trzewna, zespół Downa, częstość występowania, badania przesiewowe.A Ad dd dr re es ss s f fo or r c co or rr re es sp po on nd de en nc ce e: : Department and Clinic of Pediatrics, Allergology, and Gastroenterology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Marii Skłodowskiej-Curie, 85-094 Bydgoszcz, Poland, phone: +48 52 585 48 50, fax: +48 52 585 40 86, e-mail: klped@cm.umk.pl Review paper/Artykuł poglądowy AbstractCeliac disease is a genetically determined enteropathy caused by permanent gluten intolerance. The factors considered as responsible for celiac disease are genetic and environmental factors, as well as auto-immunological processes which lead to chronic inflammation. There are reports in the literature that indicate co-occurrence of celiac disease with many diseases, and one of the reported risk groups of celiac disease is patients with the most frequent chromosome abnormalityDown's syndrome. Many societies and authors recommend screening of this group. StreszczenieCeliakia jest genetycznie uwarunkowaną enteropatią spowodowaną trwałą nietolerancją glutenu. Wśród czynników odpowiedzialnych za ujawnienie choroby trzewnej wymienia się czynniki genetyczne, środowiskowe oraz procesy autoimmunologiczne prowadzące do przewlekłych stanów zapalnych. W piśmiennictwie opisuje się współistnienie choroby trzewnej z wieloma jednostkami chorobowymi, a za jedną z grup ryzyka rozwoju celiakii uznaje się najczęstszą aberrację chromosomalną, jaką jest zespół Downa. Wiele towarzystw i autorów rekomenduje przeprowadzanie badań przesiewowych w tej grupie pacjentów.
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