Title Hemolitičko-uremijski sindrom u djece Title (english) Hemolytic uremic syndrome in children Author Petra Ptiček Mentor Ana Milardović (mentor)Mentor Lucija Ružman (komentor)Committee member Iva Bilić Čače (predsjednik povjerenstva)Committee member Kristina Lah Tomulić (član povjerenstva)Committee member Gordana Blagojević Zagorac (član povjerenstva)Granter University of Rijeka Defense date and country 2022-07-15, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Hemolitičko-uremijski sindrom klinički je sindrom okarakteriziran istovremenom pojavom mikroangiopatske hemolitičke anemije, trombocitopenije i akutne bubrežne ozljede. HUS je glavni uzrok akutne bubrežne ozljede u djece. Značajnu ulogu u patogenezi ima pretjerana aktivacija sustava komplementa. Prema najnovijoj klasifikaciji razlikujemo nasljedni i stečeni HUS. 90% slučajeva HUS-a uzrokuje STEC, a otprilike polovicu ostalih slučajeva uzrokuju mutacije gena za regulatorne proteine i komponente sustava komplementa. Streptococcus pneumoniae povezan je s 5-15% slučajeva HUS-a. Pojava nasljednog HUS-a može biti povezana s mutacijama drugih gena kao što su DGKE, PLG i THBD gen ili s poremećajem metabolizma kobalamina C. U skupinu stečenog HUS-a posredovanog infekcijom spadaju STEC-HUS te HUS uzrokovan brojnim drugim mikroorganizmima poput Shigellae dysenteriae, Streptococcusa pneumoniae, HIV-a te influenza virusa. Neinfektivni uzroci stečenog HUS-a mogu biti protutijela na komponente komplementa, neželjene posljedice uzimanja lijekova i specifična stanja (autoimune bolesti, stanje po transplantaciji tkiva i organa te maligne bolesti). Iako HUS dominantno pogađa bubreg, i ostali organski sustavi mogu biti zahvaćeni. Dijagnoza HUS-a obično je klinička, a potvrđuje se laboratorijskim pretragama. Po postavljanju dijagnoze treba odrediti etiologiju koja je dovela do pojave HUS-a. Najveći dio terapijskih postupaka koji se provode prilikom liječenja HUS-a čine suportivne mjere. U liječenju HUS-a posredovanog poremećajima komplementa koriste se infuzije svježe smrznute plazme, plazmafereza, ekulizumab, transplantacija bubrega i istovremena transplantacija jetre i bubrega. Ekulizumab je rekombinantno, humano monoklonsko protutijelo na C5 komponentu komplementa, a doveo je do poboljšanja u liječenju HUS-a. Njegova primjena kod drugih oblika HUS-a još se istražuje.
Abstract (english) Hemolytic uremic syndrome is a clinical syndrome characterized by simultaneous occurrence of microangiopathic hemolytic anemia, thrombocytopenia and acute renal injury. HUS is a major cause of acute renal injury in children. Excessive activation of the complement system plays a significant role in the pathogenesis. According to the latest classification there are two main groups of HUS – hereditary and acquired. 90% of HUS cases are caused by STEC, about half of the other cases are caused by mutations of genes for regulatory proteins and components of the complement system. S. pneumoniae is associated with 5-15% cases of HUS. The occurrence of atypical HUS may be associated with mutations of other genes such as DGKE, PLG and THBD gene or with a cobalamin C metabolism disorder. Acquired HUS can be caused by STEC, and several other microorganisms such as Shigella dysenteriae, Streptococcus pneumoniae, HIV and influenza virus. Non-infectious causes of acquired HUS are antibodies to complement components, adverse effects of medication and specific conditions (autoimmune diseases, tissue and organ transplantation, and malignancies). Although HUS predominantly affects the kidney, other organ systems can be affected. The diagnosis of HUS is usually clinical, and it is confirmed by laboratory tests. When the diagnosis is made, the etiology must be determined. Most of the therapeutic procedures are supportive measures. Fresh frozen plasma infusions, plasmapheresis, eculizumab, kidney transplantation, and combined liver-renal transplantation are used to treat complement-mediated HUS. Eculizumab is a recombinant, human monoclonal antibody to the C5 component of complement, and has led to a positive shift in the treatment of HUS. Its role in other forms of HUS is still being investigated.
Keywords
akutna bubrežna ozljeda
ekulizumab
HUS
STEC
sustav komplementa
Keywords (english)
acute kidney injury
complement system
eculizumab
HUS
STEC
Language croatian URN:NBN urn:nbn:hr:184:869731 Study programme Title: Medicine Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2022-06-29 13:21:43
