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Renal agenesis, bilateral
Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
ORPHA:1848Classification level: Subtype of disorder
Fetal prevalence of bilateral renal agenesis in Europe has been estimated at 1/8,500.
Bilateral renal agenesis is characterized by absence of renal function and therefore urine production by the fetus, resulting in oligohydramnios. The disease is associated with restricted fetal movement and pulmonary hypoplasia. Newborns with bilateral renal agenesis can be expected to show features of the Potter sequence including wide-set eyes, flattened nose, receding chin and large, low-set ears deficient in cartilage.
Renal agenesis results from a development failure of the ureteric bud and the metanephric mesenchyme. In a few cases bilateral renal agenesis can be caused by mutations in the RET(10q11.2), FGF20 (8p22-p21.3) or the ITGA8 (10p13) genes. Maternal diabetes mellitus or use of specific drugs during pregnancy can also result in renal agenesis.
Diagnosis is based on fetal ultrasonography findings of absent kidneys, with associated absence of bladder filling. Fetal magnetic resonance imaging can confirm the diagnosis. Renography would show no renal uptake but is not indicated as there will be no urine production.
Differential diagnoses of an empty renal fossa include extreme renal dysplasia (i.e. renal aplasia), involuted multicystic dysplastic kidney (see this term), and renal ectopia. Differential diagnoses of absent (fetal) renal function include bilateral renal aplasia, bilateral multicystic dysplastic kidney, renal tubular dysgenesis, and complete obstruction of the urinary tract, such as severe posterior urethral valves and other forms of lower urinary tract obstructions (LUTO) (see these terms).
Ultrasonographic screening can detect renal agenesis from midway through gestation. However, antenatal diagnosis can be complicated when the fetal adrenal gland occupies the empty renal bed as it can mimic a kidney. However, anhydramnios raises a high index of suspicion.
Transmission is autosomal recessive. In cases where a genetic cause is known, families may benefit from genetic counseling.
Management and treatment
The main focus is on obtaining the right diagnosis as this is vital for the management of pregnancies complicated by bilateral renal agenesis. This will frequently lead to a termination of pregnancy. As there are currently no treatment options for the associated pulmonary hypoplasia, newborns will die shortly after birth, and management should be aimed at providing support and comfort for the neonate and its family.
Fetuses found to have bilateral renal agenesis are usually terminated, or if born, will die shortly after birth from lung hypoplasia.
- Summary information
- Suomi (2014, pdf)