Potter’s syndrome or Potter’s sequence: types, symptoms and causes

This type of medical condition is caused by renal and developmental problems in the fetus.

Different factors, including kidney malformations, can interfere with intrauterine development and cause alterations in other body systems.

In this article we will discuss the causes, symptoms and types of Potter's syndromePotter's syndrome, the name given to this phenomenon, often of genetic origin.

What is the Potter sequence?

The terms "Potter's sequence" and "Potter's syndrome" are used to refer to a are used to refer to a set of physical malformations that occur in infants as a result of alterations in the kidneys, absence of amniotic fluid (oligohydramnios) or compression during intrauterine development.

In 1946 the physician Edith Potter described twenty cases of people without kidneys who also presented peculiar physical features in the head and lungs. peculiar physical features in the head and lungs.. Potter's contributions were key to raising awareness of this disease, which was more common than previously thought.

Potter believed that this type of physical malformation was always due to the absence of the kidneys, or renal agenesis; however, it was later found that there were other possible causes. Based on these and the associated alterations, the typological classification that we use today was developed.

Causes of this disorder

Potter's syndrome is often is often associated with diseases and problems of the urinary system. such as agenesis of the kidneys and ureter, polycystic and multicystic kidney disease, or urinary tract obstruction, which can be due to both genetic and environmental causes.

Many cases of Potter syndrome have a genetic origin (although not always hereditary); mutations in chromosomes 1, 2, 5 and 21 have been identified in the variants with bilateral renal agenesis, and similar causes have also been identified in the other types.

The development of the classic variant consists of a series of interrelated events; this is why it is also called the "Potter sequence". Incomplete formation of the kidneys and/or the ureter or rupture of the amniotic sac cause the fetus to have insufficient amniotic fluid to form properly.

Main symptoms and signs

Sometimes the signs that characterize Potter syndrome can be observed already during intrauterine development. Most commonly, medical examinations reveal the presence of cysts in the kidneys, or oligohydramnios or absence of or absence of amniotic fluidwhich is usually due to rupture of the sac containing it.

After birth the facial features described by Potter become evident: flattened nose, epicanthal folds in the eyes, receding chin and abnormally low-set ears. In addition, alterations in the lower and upper extremities may occur. However, these features are not always present to the same degree.

Potter syndrome is also associated with malformations of the eyes, lungs, Cardiovascular system, intestines and bones.The urogenital system is often malformed, and the urogenital system is often malformed. The urogenital system is usually significantly altered.

Types of Potter syndrome

The various forms of Potter's syndrome are currently classified into five broad categories or types. These differ in both causes and nuclear clinical manifestations. On the other hand, it is also important to mention the classical form of this disease and the one associated with multicystic renal dysplasia, which was discovered very recently.

Type I

This variant of Potter's syndrome occurs as a consequence of polycystic consequence of autosomal recessive polycystic kidney diseaseThis hereditary disease affects the kidneys and is characterized by the appearance of numerous small, fluid-filled cysts. This causes enlargement of the kidneys and interferes with urine production.

2. Type II

The main feature of type II is renal agenesis or aplasia, ie, the congenital absence of one or both kidneys.In the second case we speak of bilateral renal agenesis. Since other parts of the urinary system, such as the ureter, are also often affected, these signs are often referred to as "urogenital agenesis". The origin is usually hereditary.

Type III

In this case the malformations are due to autosomal dominant polycystic kidney disease (unlike type I, in which the disease is transmitted by recessive inheritance). Cysts in the kidneys and an enlargement of their size are observed, as well as an increase in the frequency of vascular disease. Symptoms usually manifest in adult life..

4. Type IV

Potter's syndrome type IV is diagnosed when cysts and/or water accumulation (hydronephrosis) occurs in the kidneys due to chronic obstruction of the kidneys or ureter. This is a common variant during the fetal period and does not usually result in miscarriage. The cause of these alterations can be both genetic and environmental..

5. Classic form

When we speak of classic Potter syndrome we are referring to cases in which the kidneys do not develop (bilateral renal agenesis), nor does the ureter. It has been proposed that the classic form described by Potter in 1946 can be considered an extreme version of type II, also characterized by renal agenesis.

6. Multicystic renal dysplasia

Multicystic renal dysplasia is an alteration characterized by the presence of numerous and irregular numerous and irregular cysts in the kidneys.In comparison with the term "polycystic", "multicystic" indicates a lesser severity. In recent years cases of Potter's syndrome due to this disorder have been identified which may indicate a possible new type.