Spectrum of diseases that are presented as cholestasis with low/normal values of gamma glutamyl transpeptidase

Abstract

U ovom radu predstavljena je skupina bolesti koje se prezentiraju kao kolestaza, ali bez povišenja vrijednosti GGT-a. To je skupina rijetkih bolesti koje su najčešće genski vezane, a prvi simptomi se pojavljuju već u dojenačkoj dobi. U samom početku rada napisano je par riječi općenito o kolestazi, te o značajnosti ranog otkrivanja ovih bolesti. Nakon toga, u poglavlju „Dijagnostika“ opisan je put po „piramidi“ dijagnostičkih metoda kojima po redu isključujemo bolesti slične simptomatologije i dolazimo do sigurne dijagnoze određene bolesti. Najveći dio rada zauzimaju opisi svake pojedine bolesti, od njihove etiologije i epidemiologije, preko simptoma i dijagnostike, pa sve do terapije i liječenja. Iako ove bolesti izazivaju gotovo podjednake simptome, svaka od njih ima određene posebnosti, ili u simptomatologiji, ili u rezultatima određenih pretraga. Ove male razlike nam omogućuju točnu dijagnozu određene bolesti. Na kraju rada su prikazana 3 slučaja pacijenata liječenih u KBC-u Zagreb, te njihov put od početnih simptoma, do dijagnoze i terapije. Ti slučajevi najbolje pokazuju razlike u simptomatologiji bolesnika oboljelih od iste bolesti, te različite uspjehe liječenja gotovo istim metoda kod različitih pacijenata.This paper describes a group of diseases which are presented as cholestasis, but without an increased value of GGT. This is a group of rare diseases that are usually genetically related and the first symptoms appear already in infancy. In the beginning of paper few words are written about cholestasis in general and about the significance of early detection of these diseases. After that in the chapter "Diagnostics" the path through the "pyramid" of diagnostic methods used is described, in order to exclude diseases with similar symptoms and come to certain diagnosis of specified disease. In biggest part of the paper are descriptions of each disease, from their etiology and epidemiology, through diagnosis and symptoms, to therapy and treatment. Although these diseases cause nearly equal symptoms, each of them has certain peculiarities in symptomatology, or in the results of certain tests. These small differences allow us to come to correct diagnosis of certain diseases. Finally, the paper presents 3 cases of patients treated in the KBC Zagreb and their time from onset of first symptoms, to diagnosis and therapy. These cases are best examples of variations in the symptomatology of patients suffering from the same disease, and various success of treatment with almost the same method in different patients