Congenital diseases of the kidneys part 2

COMMON TYPES OF CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT :

• Hydronephrosis

Vesikoureteral reflux, ureteropelvic junction obstruction, lower urinary tract obstruction

• Renal parenchymal malformation

Agenesis, dysplasia, multicystic dysplastic

• Disordered renal migration and collecting system formation 

Ectopic kidneys, horseshoe kidneys, duplicated collecting system




SYNDROMES THAT CAN BE ASSOCIATED WITH VACTERL :

1. SINGLE GENE DEFECTS

• Alagile syndrom (JAG1 gene)

Liver defects (bile duct paucity), heart defect (tetralogi of fallot, ventricle septal defect), facial defects (prominent forehead, short chin), renal defects (agenesis, hypoplasia, ureteropelvic junction obstruction, vesicoureteral reflux)

• Holt-Oram syndrom (TBX gene)

Heart defects (atrial septal defect, ventricle septal defect), limb defects (polydactily, hypoplastic thumb), renal defects (ectopic kidneys, horseshoe kidneys, vesicoureteral reflux, hypoplasia)

• Smith-Lemli-Opitz syndrome (DHCR7 gene inborn error in cholesterol synthesis)

Heart defects, limb defects, developmental delay, renal defects (ureteropelvic junction obstruction, hydronephrosis, dysplasia)



2. CHROMOSOMAL ANOMALIES (TRISOMY 18)

Heart defects, microcephaly, cleft palate, rocker bottom feet, growth delay, developmental delay, renal defects (horseshoe kidney, hydronephrosis, duplicated collecting system)