Congenital ascites in newborns

master's thesis

• Title (croatian): Kongenitalni ascites u novorođenčadi
• Author: Genta Zhubi
• Mentor: Jurica Vuković (mentor)
• Committee member: Ruža Grizelj (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Jurica Vuković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2018-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Congenital ascites occurs when there is increased fluid build-up in the peritoneal cavity of the fetus. It can occur in the setting of non-immune hydrops fetalis (NIHF) or be isolated. HF develops when fluid accumulates in extra-vascular areas and cavities of the fetal body. Examples of HF include a pericardial effusion, pleural effusion, ascites, placental growth and uniform skin thickening or skin edema. Congenital ascites can be diagnosed prenatally by an ultrasound exam, through which we are also able to find the cause of some cases of ascites. Biochemical and cytological laboratory analysis have been used in addition to the ultrasound exam, as these methods are more successful in identifying etiologies of congenital ascites. In this review paper, I will discuss several cases of congenital ascites in newborns, which have different etiological origin. In the first case, a neonate presents with congenital chylous ascites and cholelithiasis due to maldevelopment of the lymphatic system. Next, a discussion of four cases will follow in which all neonates present with congenital ascites due to different lysosomal storage diseases. In the third case, a neonate presents with severe congenital ascites and is simultaneously diagnosed with autosomal recessive polycystic kidney disease (ARPKD). The final discussion will focus on a series of 100 cases of congenital ascites for which biochemical and cytological testing were performed to identify the causes of ascites.

Abstract (croatian)

Kongenitalni ascites se javlja kada se tekućina nagomilava u peritonealnoj šupljini fetusa. Može se javiti u okviru neimunskog fetalnog hidropsa (NIHF) ili može biti izoliran. Fetalni hidrops (FH) se javlja kada se tekućina nakuplja u ekstravaskularnom prostoru i u šupljinama fetalnog tijela. Primjeri fetalnog hidropsa su perikardijalni izljev, pleuralni izljev, ascites, prekomjerni porast placente i generalizirani edemi cijelog tijela. Kongenitalni ascites se može dijagnosticirati prenatalno ultrazvučnim pregledom i pomoću ultrazvuka u nekim slučajevima se može ustanoviti uzrok kongenitalnog ascitesa. Osim ultrazvuka, razne biokemijske i citološke laboratorijske analize korisne su u razlučivanju etiologije kongenitalnog ascitesa. U ovom preglednom članku razmotrit ću nekoliko slučaja kongenitalnog ascitesa s različitom
etiologijom u novorođenčadi. U prvom slučaju riječ je o novorođenčetu s kongenitalnim hiloznim ascitesom i kolelitijazom zbog poremećaja u razvoju limfatičnog sistema. Sljedeća su četiri novorođenčeta s kongenitalnom ascitesom čiji uzrok su bile lizosomske bolesti nakupljanja. Treći slučaj je novorođenče s teškim kongenitalnim ascitesom koje je imalo autosomno recesivnu policističnu bolest bubrega. Na kraju analiziramo seriju od 100 objavljenih bolesnika s kongenitalnim ascitesom koji su obrađeni temeljem biokemijske i citološke analize za otkrivanje uzroka ascitesa.

• Keywords: congenital ascites; non-immune hydrops fetalis; lysosomal storage diseases
• Keywords (croatian): kongenitalni ascites; neimunski fetalni hidrops; lizosomske bolesti nakupljanja
• Language: english
• URN:NBN: urn:nbn:hr:105:071122
• Study programme: Title: Medicine (in English language); Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2019-03-28 12:08:39