SCIENTIFIC BACKGROUND

ACTA2, ACTG2, BMP4, CHD1L, CHRM3, DSTYK, GATA3, HNF1B, PAX2, ROBO2

Category:

Lower urinary tract obstruction (LUTO) is a rare congenital malformation that mainly affects boys. The prevalence is estimated at 1:5,000 to 1:8,000. LUTO is a heterogeneous group of different congenital urinary tract malformations that can occur in isolation or as part of a syndrome together with other anomalies. The natural course of LUTO is characterized by high morbidity and mortality.

 

LUTO is most frequently caused by posterior urethral valves (PUV) or urethral atresia. In both cases, there is a narrowing or complete obstruction of the urethra and, as a result, an accumulation of urine. This can lead to prenatal damage to other urinary tract organs such as the bladder, ureter and especially the kidneys. The damage to the renal parenchyma can lead to kidney failure. The impaired production or excretion of urine leads to oligohydramnios in pregnancy, which can result in impaired lung development in the fetus (lung hypoplasia). Both the damage to the kidneys and the lung hypoplasia are responsible for the high mortality rate of fetuses and newborns with LUTO.

 

Further complications can occur postnatally, such as frequent urinary tract infections, micturition disorders, bladder enlargement or a secondary failure to thrive. It is not uncommon for terminal kidney failure to occur with the need for dialysis.

 

GENES

ACTA2, ACTG2, BMP4, CHD1L, CHRM3, DSTYK, GATA3, HNF1B, PAX2, ROBO2

ASSOCIATED TESTS

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