Potter sequence

Joseph R Siebert PhD (Dr. Siebert of the University of Washington has no relevant financial relationships to disclose.)
Harvey B Sarnat MD FRCPC MS, editor. (Dr. Sarnat of the University of Calgary has no relevant financial relationships to disclose.)
Originally released April 1, 1994; last updated June 4, 2017; expires June 4, 2020

This article includes discussion of Potter sequence, oligohydramnios sequence, Potter syndrome, Potter's sequence, Potters sequence, congenital anomalies of the kidney and urinary tract, and CAKUT. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Potter syndrome, also known as oligohydramnios sequence, covers a phenotypically and genetically heterogeneous group of familial or sporadic conditions that may stem from different origins. Affected newborns have characteristic facial and limb deformities and pulmonary hypoplasia resulting from oligohydramnios, primarily consequent to severe renal pathologies or occasional nonurinary mechanisms. The author highlights new developments in the treatment of oligohydramnios and reviews CNS anomalies associated with some cases of Potter syndrome.

Key points

 

• In classic Potter syndrome, bilateral renal agenesis and consequent anhydramnios lead to a constellation of findings characterized by congenital deformations (flattened “Potter” facies and limb deformities).

 

• Potter “sequence” enlarges the pathogenetic spectrum by including other renal or urinary anomalies that also lead to oligo/anhydramnios either by failure of urine production or obstruction to urine outflow.

 

• Oligo/anhydramnios can also stem from nonrenal causes (eg, chronic leakage of amniotic fluid or placental pathology), but a major complication arising from all causes is pulmonary hypoplasia, with subsequent death in the newborn period from respiratory insufficiency.

 

• Some cases are associated with gene mutations, most recently integrin alpha 8; inheritance in familial cases has been described as autosomal dominant, recessive, or multifactorial.

Historical note and terminology

Edith Potter first described a syndrome in infants characterized by bilateral renal agenesis and associated deformities, such as flattening of facies (Potter 1946). Potter later extended the syndrome to include other severe cystic kidney conditions. Subsequently, the term “sequence” replaced “syndrome” because the characteristic phenotype of these infants is independent of the kidney pathology and is related to the ensuing oligohydramnios. Consequently, “oligohydramnios sequence” and “Potter sequence” are used interchangeably (Curry et al 1984; Liu et al 1999).

Involvement of the CNS in oligohydramnios sequence has sometimes been mentioned in the literature; however, only exceptionally has a detailed neuropathologic study of these defects been conducted (Kadhim et al 1993).

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