Najčešći patološki laboratorijski nalazi i kliničke indikacije za biopsiju bubrega u djece

master's thesis

• Title (english): Common abnormal laboratory results and clinical indication for renal biopsy in pediatric population
• Author: Nika Šangulin
• Mentor: Stela Bulimbašić (mentor)
• Committee member: Ivica Horvatić (predsjednik povjerenstva)
• Committee member: Stela Bulimbašić (član povjerenstva)
• Committee member: Ana-Marija Domijan (član povjerenstva)
• Granter: University of Zagreb; Faculty of Pharmacy and Biochemistry; Zagreb
• Defense date and country: 2020-09-29, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Pharmacy; Medical Biochemistry

Abstract

Obrada pedijatrijskih pacijenata s oštećenjem bubrežne funkcije uključuje više neinvazivnih metoda kao što su klinički i ultrazvučni pregled te brojne laboratorijske analize krvi i urina. Pa ipak, s obzirom da se različite bolesti mogu slično klinički manifestirati, često je nužno napraviti i biopsiju bubrega.
U radu su obrađene najčešće kliničke manifestacije i patološki laboratorijski nalazi djece kojima je od siječnja 2018. do prosinca 2019. u KBC Zagreb učinjena biopsija bubrega. Kliničke manifestacije bolesti uspoređene su s nalazima biopsije bubrega.
Tijekom dvogodišnjeg razdoblja učinjene su 54 biopsije bubrega u 52 djeteta, 32 (61,5%) muška i 20 (38,5%) ženska; starosti od 13 mjeseci do 17 godina uz medijan 10 godina. Dvije najčešće indikacije za biopsiju bubrega bile su nefrotski sindrom i izolirana hematurija, a svaki su nađeni u 15 (27%) slučajeva. Klinička dijagnoza Henoch-Schönlein purpure nađena je u 5 slučajeva, dok su sindrom hematurije s proteinurijom, nefritički sindrom, kronična bubrežna insuficijencija i pogoršanje funkcije bubrežnog grafta bili indikacije svaki u 3 dodatna slučaja.
Alportov sindrom bio je najčešća biopsijom postavljena dijagnoza a nađen je u 12 (22%) slučaja; slijedi Bolest minimalnih promjena, Henoch-Schönlein purpura i IgA nefropatia, nađene u 8, 5 i 4 slučaja.
Od 12 pacijenata s Alportovim sindromom, 9 se manifestiralo hematurijom, a po jedan sindromom hematurije i proteinurije, nefrotskim sindromom te nefrotskim sindromom sa eritrociturijom. Iako nalaz Alportovog sindroma kao najčešće postavljene dijagnoze odudara od drugih studija, njegov nalaz u istraživanom razdoblju može se objasniti visokim stupnjem informiranosti i aktivnim traženjem osoba s karakterističnim obilježjima zbog potencijalnog uključivanja u znanstvenu studiju genetskih promjena vezanih za ovu nasljednu bolest.

Abstract (english)

Pediatric patients with abnormal renal function are evaluated with several non-invasive methods including clinical examination, ultrasound, serum and urine analysis. However, since many different diseases may have a similar presentation, in many instances it's also necessary to perform renal biopsy.
This study evaluated common clinical manifestations and abnormalities of serum and urine analysis in children who underwent renal biopsy at University Hospital Centre Zagreb during January 2018-December 2019. Clinical manifestations of renal diseases were correlated with results on renal biopsy.
There were a total of 54 renal biopsies from 52 pediatric patients, 32 (61,5%) males and 20 (38,5%) females; age range from 13 months to 17 years; median 10 years. Two most common indications for renal biopsy were nephrotic syndrome and hematuria, each accounting for 15 (27%) of cases. Specific clinical diagnosis of Henoch-Schönlein purpura was found in 5 cases, while hematuria/proteinuria, nephritic syndrome, chronic renal insuficiency and dysfunction of kidney allograft were indication for biopsy each in additional 3 cases.
The most common diagnosis on renal biopsy was Alport syndrome found in 12 (22%) cases, followed by Minimal Change Disease, Henoch-Schönlein purpura and IgA nephropathy accounting for additional 8, 5 and 4 cases.
Among 12 patients with Alport syndrome, 9 had isolated hematuria, and the rest presented with hematuria/proteinuria; pure nephrotic syndrome and nephrotic syndrome with erythrocyturia. Having Alport syndrome as the leading biopsy proven diagnosis is very unusual. However, it can be explained by higher awareness and active search for individuals with typical phenotype, needed for inclusion into ongoing study of genetic changes related to this rare disease.

• Keywords: bubrežno oštećenje; pedijatrijska populacija; laboratorijska dijagnostika; biopsija bubrega
• Keywords (english): renal injury; pediatric population; laboratory diagnostics; kidney biopsy
• Language: croatian
• URN:NBN: urn:nbn:hr:163:112920
• Study programme: Title: Medical biochemistry; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: magistar/magistra medicinske biokemije i laboratorijske medicine (magistar/magistra medicinske biokemije i laboratorijske medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-04-30 15:11:28