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Potter Syndrome: Bilateral Renal Agenesis

Definition of Potter Syndrome

Bilateral renal agenesis (Potter syndrome) is a rare and invariably fatal malformation with bilateral absent kidneys (Potter, 1965).

Epidemiology of Potter syndrome:

• Incidence: 3–15/100.000 births for bilateral renal agenesis, 3–20/100.000 births for bilateral renal dysgenesia. In 75%, boys are affected.

Etiology of Potter Syndrome:

Recessive inheritance is likely; siblings of children with bilateral renal agenesis are also affected in 3.5%. The absence of a ureteric bud or metanephric blastema results in the complete absence of renal tissue.

The oligohydramnios and/or the lack of renal proline production leads to pulmonary hypoplasia, respiratory insufficiency and Potter facies of the children.

Signs and Symptoms of Potter syndrome

• 40% stillbirth, 90% die within 48 h.
• Oligohydramnios, low birth weight
• Potter facies: curved skin fold below the eye, low-set ears, and dry, wrinkled skin.
• Leg deformity (excessive flexion of hip and knees)
• Respiratory insufficiency leading to death
• Anuria and increasing retention parameters

Diagnosis of Potter Syndrome

• Maternal ultrasound screening reveals oligohydramnios and fails to detect renal tissue.
• Postnatal ultrasound, in doubtful cases static renal scintigraphy

References

  Deutsche Version: Bilaterale Nierenagenesie

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