Renal oligohydramnios and Potter sequence with cystic kidney disease

• Main Authors: E. F. Andreeva, N. D. Savenkova
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2021-03-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: newborns; potter phenotype; potter sequence; renal oligohydramnios; cystic kidney disease
• Online Access: https://www.ped-perinatology.ru/jour/article/view/1337

For the first time in 1946 E.L. Potter (1901–1993) described the characteristic appearance of stillborns and deceased newborns with bilateral renal agenesis. Due to the further observations Potter distinguished the syndrome (Q60.6) – a set of characteristic external signs that are formed due to the extreme degree of oligohydramnios and intrauterine compression of the fetus. Classical Potter syndrome is diagnosed by the disfunction of both kidneys in the fetus (for example, bilateral agenesis), which leads to death. The term «Potter sequence» or oligohydramnios sequence with diverse causes has received the wide clinical use. The term «renal oligohydramnios» (ROH) is used to describe oligohydramnios resulting from a decrease or absence of fetal kidney function. The authors state that renal oligohydramnios and Potter sequence often develop in the fetus with cystic kidney disease with the formation of cysts in the parenchyma of both kidneys (autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, glomerulocystic kidney disease associated with HNF1ß/TCF2 gene mutations, renal-coloboma syndrome, cystic renal hypoplasia, cystic renal dysplasia with mutations of the CEP55 gene).