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Urinary tract defects Prof. Z. Babay. Urinary tract defects Accounts for 34% of all malformations detected by ultrasound Accounts for 34% of all malformations.

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Presentation on theme: "Urinary tract defects Prof. Z. Babay. Urinary tract defects Accounts for 34% of all malformations detected by ultrasound Accounts for 34% of all malformations."— Presentation transcript:

1 urinary tract defects Prof. Z. Babay

2 Urinary tract defects Accounts for 34% of all malformations detected by ultrasound Accounts for 34% of all malformations detected by ultrasound 32% of these are isolated findings 32% of these are isolated findings 48% associated with chromosomal abnormality or other syndromes 48% associated with chromosomal abnormality or other syndromes Pelvi calyceal dilatation occur in 87% of all cases Pelvi calyceal dilatation occur in 87% of all cases Only 13% of cases are isolated parenchymal disease without pelvi-calyceal dilatation Only 13% of cases are isolated parenchymal disease without pelvi-calyceal dilatation Only 25% of the cases of renal dysplasia are detected by ultrasound Only 25% of the cases of renal dysplasia are detected by ultrasound

3 Urinary tact defects Kidneys are visible by 12 weeks of gestation Kidneys are visible by 12 weeks of gestation At renal pyramids are visible At renal pyramids are visible The ratio of renal to AC is always 30% The ratio of renal to AC is always 30% Normal ureters are not visible by ultrasound Normal ureters are not visible by ultrasound

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5 Urinary tract abnormalities Classification: Classification: A) Parenchymal: Multi-Cystic disease A) Parenchymal: Multi-Cystic disease Dysplasia (Potters) Dysplasia (Potters) Renal agenesis Renal agenesis B) Obstructive

6 Urinary tract abnormalities Incidence: Incidence: Bilateral in 1: 5000 births Bilateral in 1: 5000 births Unilateral in 1:2000 births Unilateral in 1:2000 births Could be isolated or part of a syndrome or chromosomal abnormality Could be isolated or part of a syndrome or chromosomal abnormality If part of a syndrome----the risk of recurrence is 3% If part of a syndrome----the risk of recurrence is 3% If one parent is has unilateral renal agenesis---risk is 15% If one parent is has unilateral renal agenesis---risk is 15%

7 Renal agenesis (cont.) Usually associated with oligo- or anhydramnios and empty bladder Usually associated with oligo- or anhydramnios and empty bladder If unilateral------normal AFI-----good prognosis If unilateral------normal AFI-----good prognosis If bilateral---lethal-----pulmonary hypoplasia If bilateral---lethal-----pulmonary hypoplasia Failure to visualize renal arteries by color Doppler can help in the diagnosis Failure to visualize renal arteries by color Doppler can help in the diagnosis

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10 Infantile polycystic kidney (Potter type I) Found in 1:30,000 births Found in 1:30,000 births Autosomal recessive Autosomal recessive Carried on the short arm of chromosome 6 Carried on the short arm of chromosome 6 Diagnosis by PGD or ultrasound Diagnosis by PGD or ultrasound

11 Potter I (cont.) By ultrasound: By ultrasound: Markedly enlarged kidneys, numerous cortical cysts, dilated collecting ducts Markedly enlarged kidneys, numerous cortical cysts, dilated collecting ducts Oligohydramnios Oligohydramnios Loss of cortico-medullary junction Loss of cortico-medullary junction Usually seen at 24 weeks Usually seen at 24 weeks Usually lethal Usually lethal Can accompany hepatic cysts or fibrosis Can accompany hepatic cysts or fibrosis

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13 Multicystic Dysplastic kidneys(PottersII) Occur in 1: 1000 births Occur in 1: 1000 births Usually sporadic Usually sporadic Result from obstruction at early fetal life Result from obstruction at early fetal life Could be Associated with chromosomal abnormalities, genetic syndromes or cardiac defects in 50% of cases Could be Associated with chromosomal abnormalities, genetic syndromes or cardiac defects in 50% of cases In 15% of cases there is contra lateral renal agenesis In 15% of cases there is contra lateral renal agenesis

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16 Potters II (cont.) By ultrasound: By ultrasound: Irregular cysts of variable size with intervening hyper-echoic stroma Irregular cysts of variable size with intervening hyper-echoic stroma It can be unilateral, bilateral or segmental It can be unilateral, bilateral or segmental If bilateral----oligohydramnios--- absent bladder---lethal If bilateral----oligohydramnios--- absent bladder---lethal If unilateral--- good prognosis If unilateral--- good prognosis

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18 Adult polycystic kidney disease (APKD) Autosomal dominant Autosomal dominant 1:1000 of APKD carry mutant gene 1:1000 of APKD carry mutant gene Usually asymptomatic until 3 rd decade of life Usually asymptomatic until 3 rd decade of life Ultrasound: enlarged hyper-echoic kidneys with or without multiple cysts Ultrasound: enlarged hyper-echoic kidneys with or without multiple cysts There is accentuation of cortico- medullary junction There is accentuation of cortico- medullary junction

19 Renal Dysplasia (potters III) Markedly enlarged kidneys with cysts of variable size Markedly enlarged kidneys with cysts of variable size Both kidneys are equally enlarged Both kidneys are equally enlarged 1/3 have cysts in the liver, pancreas, spleen or lungs 1/3 have cysts in the liver, pancreas, spleen or lungs 1/5 have cerebral aneurysm 1/5 have cerebral aneurysm It is the expression of adult poly-cystic kidney (autosomal dominant) and other mendelian disorders e.g. tuberous sclerosis It is the expression of adult poly-cystic kidney (autosomal dominant) and other mendelian disorders e.g. tuberous sclerosis

20 APKD (cont.) AFI is normal or slightly reduced AFI is normal or slightly reduced Prenatal diagnosis is by PGD Prenatal diagnosis is by PGD If one parent is affected----normal kidneys by ultrasound does not exclude the disease If one parent is affected----normal kidneys by ultrasound does not exclude the disease

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22 Obstructive uropathies If occur early in fetal life---renal hypo- plasia or dysplasia If occur early in fetal life---renal hypo- plasia or dysplasia If occur late in fetal life(2 nd trimester) or intermittent--- Hydronephrosis If occur late in fetal life(2 nd trimester) or intermittent--- Hydronephrosis Dilatation of fetal urinary tract does not always mean obstruction and obstruction may not show urinary tract dilatation Dilatation of fetal urinary tract does not always mean obstruction and obstruction may not show urinary tract dilatation Hydronephrosis associated with chromosomal abnormality in 20% of cases Hydronephrosis associated with chromosomal abnormality in 20% of cases

23 Hydronephrosis Found in 1% of fetuses Found in 1% of fetuses Mild-- A-P diameter of renal pelvis >4mm at weeks A-P diameter of renal pelvis >5mm at weeks A-P diameter of renal pelvis >5mm at weeks A-P diameter of renal pelvis > 7mm at weeks A-P diameter of renal pelvis > 7mm at weeks Moderate-- > A-P diameter of renal pelvis >10 mm + pelvi- calyceal dilatation

24 Hydronephrosis (cont.) In 20%---underlying obstruction at pelvi- ureteric junction, or vesico-ureteric reflux, or posterior uretheral valve In 20%---underlying obstruction at pelvi- ureteric junction, or vesico-ureteric reflux, or posterior uretheral valve Post-natal surgery is needed in 50% of cases Post-natal surgery is needed in 50% of cases

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29 Assessment of fetal renal function Ultrasound + analysis of fetal urine by urodochocentesis or pyelocentesis Ultrasound + analysis of fetal urine by urodochocentesis or pyelocentesis Poor prognostic signs: Poor prognostic signs: 1)Bilateral multicystic or severely hydronephrotic kidneys with echogenic kidneys suggesting renal dysplasia 1)Bilateral multicystic or severely hydronephrotic kidneys with echogenic kidneys suggesting renal dysplasia 2)Oligo-or anhydramnios 2)Oligo-or anhydramnios 3)High urinary Na,Ca, β2 micro-globulin 3)High urinary Na,Ca, β2 micro-globulin

30 Thank you


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