CAKUT Case Study
INTRODUCTION
Congenital anomalies of the kidney and urinary tract (CAKUT) form a group of heterogeneous disorders that affect the kidneys, ureters and bladder. In this group are included common problems such as vesicoureteral reflux to severe life-threatening malformations as bilateral renal agenesis. (1-4)
In young children, CAKUT are the main cause of end-stage kidney disease, leading to the need for kidney transplantation or dialysis, causing a major impact on growth, maturation, and disturbed cognitive development and leading to a poor life expectancy (5-6). The survival rate of this group is
30 times lower than that of healthy children
(5). It may be also associated with kidney problems in adult life, such as hypertension and proteinuria.(7).
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There are related cases of familial ureterocele, renal agenesis, hypodysplasia, renal tubular dysgenesis, multicystic dysplastic kidney (MCDK), or VUR
(34, 35, 36, 37,38). The phenotype often does not follow the classic Mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. The observations that diverse forms of CAKUT occur in the same family suggest that specific genetic mutations can potentially lead to CAKUT, but the final renal system phenotype depends on either genetic background or environmental factors
(1,3). 1.1 Ureterocele is an example of CAKUT.
It is a cystic out-pouching of the distal ureter into the urinary bladder
(34,39) (IMAGE 1-3).
Ureteroceles can be a diagnostic and therapeutic challenge with clinical symptoms arising from an abnormal spectrum embryogenesis mainly associated with the abnormal development of the ureteral intravesical.
They
may be asymptomatic or appear with a wide range of clinical signs and symptoms, from recurrent urinary tract infection to bladder outlet obstruction and renal failure. Ureterocele usually causes obstruction of the affected renal unit and can be associated with varying degrees of dilatation of the renal pelvis and ureter, with or without the loss of kidney
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