Potter syndrome classification

Since its initial characterization, Potter Syndrome has been defined into five distinct subclassifications. There are those in the medical and research fields that use the term Potter Syndrome to specifically refer to only cases of BRA, while other groups use the term to loosely refer to all instances of oligohydramnios and anhydramnios regardless of the specific cause. The assignment of nomenclature to the various causes (types) were employed in order to help clarify these descrepancies, but, these subclassifications and nomenclature system have not caught on in the medical and research communities.

This term is traditionally used when the infant has bilateral renal agenesis (BRA). True BRA also presents with bilateral agenesis of the ureters. After the creation of the nomenclature system for this syndrome, BRA was recognized as possibly being an extreme variation of Potter Syndrome II. However, some clinicians and researchers still use the term Classic Potter Syndrome so as to emphasize that they are specifically referring to cases of BRA and not another form.

Type I is due to autosomal recessive Polycystic Kidney Disease (ARPKD), which occurs at a frequency of approximately one in 16,000 infants. The kidneys of the fetus/neonate will be enlarged, have many small cysts filled with fluid and will fail to produce an adequate volume of fetal urine. The liver and pancreas of the fetus may also show fibrosis and/or a cystic change. For more information about ARPKD visit the Online Mendelian Inheritance in Man (OMIM) link here: Online Mendelian Inheritance in Man (OMIM) 263200

Type II is usually due to Renal Adysplasia (Buchta et al., 1973), which can also fall under the category known as Hereditary Urogenital Adysplasia or Hereditary Renal Adysplasia (HRA). Renal Adysplasia/HRA is characterized by the complete agenesis or absence of one kidney and the remaining solitary kidney being small and malformed. Bilateral renal agenesis is believed to be the most extreme phenotypic variation of HRA. However, BRA is often referred to as “Classic Potter Syndrome” as it was this particular phenotype of neonates and fetuses that Potter originally reported in her 1946 manuscripts when characterizing this birth defect. For more information about Hereditary Urogenital Adysplasia visit the OMIM link here: Online Mendelian Inheritance in Man (OMIM) 191830

Type III is due to autosomal dominant Polycystic Kidney Disease (ADPKD) linked to mutations in the genes PKD1 and PKD2. While ADPKD is considered to be an Adult Onset Polycytic Kidney Disease, it can also present in the fetus and neonate in rare cases. Like ARPKD, ADPKD can also present with hepatic cysts and an enlarged spleen. An increased prevalence of vascular disease is also observed in these cases of ADPKD. For more information about ADPKD visit the OMIM link here Online Mendelian Inheritance in Man (OMIM) 173900

Type IV occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys or hydronephrosis. This can be due to chance, environment, or genetics. While these types of obstructions occur frequently in fetuses, they rarely tend to lead to fetal demise.

Often cystic kidneys that do not fall under the classification of being Polycystic will be termed as being Multicystic renal dysplasia (MRD). Recently many cases of MRD have been linked to the mutations in the gene PUJO, however, this new possible genetic cause has not been assigned a Potter Syndrome nomenclature number. For more information about MRD visit the OMIM link here: Online Mendelian Inheritance in Man (OMIM) 143400

Another cause of Potter Syndrome (oligohydramnios or anhydramnios) can be the rupturing of the amniotic sacs that contain the amniotic fluid of the fetus. This can happen spontaneously, by chance, environment, maternal trauma and in rare cases – maternal genetics.

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