Review article
https://doi.org/10.26800/LV-144-supl1-26
Congenital anomalies of the kidney and urinary tract (CAKUT)
Anita Racetin
; Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Split, Croatia
Nela Kelam
; Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Split, Croatia
Natalija Filipović
; Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Split, Croatia
Vlatka Martinović
; Department of Surgery, University of Mostar, School of Medicine and University Hospital Center Mostar
Adela Arapović
; Department of Pediatric Nephrology, University of Split School of Medicine and University Hospital in Split
Mirna Saraga-Babić
; Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Split, Croatia
Marijan Saraga
; Department of Pediatric Nephrology, University of Split School of Medicine and University Hospital in Split
Katarina Vukojević
; Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Split, Croatia
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are wide spectrum of prenatal malformations (isolated or as a part of syndromes), accounting for up to one quarter of overall birth defects and causes endstage renal disease in up to a half of these cases. The most sever CAKUT phenotypes arise from a disturbed differentiation or interaction of the ureteric bud and the metanephric mesenchyme. CAKUT can be triggered through interplay of various genetic and epigenetic factors, as well as by numerous extrinsic factors including maternal diabetes, medications, and folate and iron deficiency, highlighting environmental factors that modify expression of disease. Genetic impairments (about 40 monogenic isolated and about 150 as a part of a syndrome) underlay about 15% of cases with variable expressivity and incomplete penetrance. Copy number variations (CNVs) and submicroscopic chromosomal imbalances are diagnostic challenge. Early identification of mutations in genes which can lead to CAKUT can facilitate
targeted therapy. Gene panels based on next generation sequencing technology (NGS) might elucidate and significantly improve the process of testing and may lead to proper and thereby more effective diagnosis of CAKUT.
Keywords
CONGENITAL, ANOMALIES; KIDNEY; URINARY TRACT
Hrčak ID:
275953
URI
Publication date:
24.4.2022.
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