Potter Syndrome Or Sequence: Types, Symptoms And Causes
Different factors, among which kidney malformations stand out, can interfere with intrauterine development and cause alterations in other body systems.
In this article we will talk about The causes, symptoms and types of Potter syndrome the name by which this phenomenon is known, often of genetic origin.
The terms “Potter sequence” and “Potter syndrome” They are used to refer to a set of physical malformations that occur in babies as a consequence of alterations in the kidneys, the absence of amniotic fluid (oligohydramnios) or compression during intrauterine development.
In 1946, the doctor Edith Potter described twenty cases of people without kidneys who also had peculiar physical features in the head and lungs Potter’s contributions were key to raising awareness of this disease, which is more common than previously believed.
Potter believed that these types of physical malformations were always due to the absence of the kidneys, or renal agenesis; However, it was later found that there were other possible causes. The typological classification that we use today was developed around these and the associated alterations.
Causes of this alteration
Potter syndrome is often It is associated with diseases and problems of the urinary system such as agenesis of the kidneys and ureter, polycystic and multicystic kidney diseases 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 have been identified on chromosomes 1, 2, 5 and 21 in the variants with bilateral renal agenesis, and similar causes have also been identified in the other types.
The development of the classical 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 ureter or rupture of the amniotic sac They cause the fetus to not have enough 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 tests reveal the presence of cysts in the kidneys, or oligohydramnios or absence of amniotic fluid which is usually due to the rupture of the sac that contains it.
After birth, the facial features described by Potter become evident: flattened nose, epicanthic folds in the eyes, retracted chin and abnormally low ears. In addition, alterations may occur in the lower and upper extremities. However, these characteristics are not always present to the same degree.
Potter syndrome is also associated with malformations in the eyes, lungs, cardiovascular system , in the intestines and bones, especially in the vertebrae. The urogenital system is usually altered in a very significant way.
Types of Potter syndrome
Currently, the different forms that Potter syndrome takes are classified into five broad categories or types. These differ both in the causes and in the nuclear clinical manifestations. On the other hand, it is important to also mention the classic form of this disease and the one associated with multicystic renal dysplasia, discovered very recently.
This variant of Potter syndrome occurs as consequence of autosomal recessive polycystic kidney disease , a hereditary disease that affects the kidneys and is characterized by the appearance of numerous small cysts filled with fluid. This causes the kidneys to enlarge and interferes with urine production.
2. Type II
The main feature of type II is renal agenesis or aplasia, that is, the congenital absence of one or both kidneys ; In the second case we speak of bilateral renal agenesis. Because 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.
3. 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 are observed in the kidneys and an enlargement of their size, as well as an increase in the frequency of vascular diseases. Symptoms usually manifest in adulthood
4. Type IV
Potter syndrome type IV is diagnosed when cysts appear and/or water accumulates (hydronephrosis) in the kidneys due to chronic obstruction of this organ or the ureter. This is a common variant during the fetal period that does not usually cause spontaneous abortion. The cause of these alterations can be both genetic and environmental
5. Classic shape
When talking about 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.
Multicystic renal dysplasia is an alteration characterized by the presence of numerous, irregular cysts in the kidneys ; Compared to the term “polycystic,” “multicystic” indicates less severity. In recent years, cases of Potter syndrome due to this disorder have been identified that could indicate a possible new type.
