Potter Syndrome / Potter Sequence
Bilateral Renal Agenesis is sometimes referred to as Potter Syndrome however the term Potter Syndrome refers to a group of findings associated with kidney failure either due to the complete absence of the kidneys as in bilateral renal agenesis or from underdeveloped or diseased kidneys.
Potter Sequence or phenotype describes a number of facial features associated with little or no amniotic fluid which results in the uterine wall causing pressure upon the baby.
Potter Syndrome was first termed in 1946 by Dr Edith Potter who while researching the area of perinatal pathology noted that babies with bilateral renal agenesis all had similar facial characteristics. These characteristics include widely separated eyes, a broad nasal bridge,
low set ears and a receding chin. She also observed the same characteristics in babies born with polycystic kidney disease, renal hypoplasia or obstructive uropathy.
Infantile Polycystic Kidney Disease – A genetic fault which disrupts the normal development of the kidneys and liver.
The development and growth of the small tubules found in the kidney are affected resulting in bulges and cysts developing.
These cysts will eventually cause the kidneys to become enlarged and scarred thus reducing kidney function.
Renal Hypoplasia – Renal Hypoplasia is when the kidneys are not fully developed usually resulting in them being much smaller in size therefore reducing kidney output. This is usually diagnosed at the 20 week anomaly scan and it survivable.
Obstructive Uropathy – Obstructive uropathy is when there is an obstruction in the flow of urine.
This can happen anywhere throughout the renal system and can affect either one or both of the kidneys.