Tuesday 7 October 2014

Potters Syndrome

When we were given the diagnosis of Potters Syndrome none of us had a clue what it was. 
We were all a bit stunned and I don't think any of us had asked the questions we wanted to ask. 
All of us went home and I think every one of us went straight onto the internet to find out exactly what Potters Syndrome was. We joined support groups on face book and found support and information from other families that had been through the same situation.

Tonight I would like to share with you information on the syndrome and what it all entails. 
I hope this can help any family's out there understand what is happening to them and hopefully answer some questions they may have.
We understand that when you are sat down in a Dr's office you don't always remember to ask all the questions you have been thinking of. 

Potters Syndrome is also known as Potters Sequence and Bilateral Renal Agenesis.

What is Potters Syndrome ?

When the baby is subjected to Oligohydramnios (low  or no amniotic fluid) and compression whilst in the womb, it results in the formation of certain features in the baby. This condition is what is called Potters Syndrome. 
Oligohydramnios may be caused by conditions such as Renal Hypoplasis, Obstructive Uropathy, Premature or early rupture of the membranes and Cystic Kidney Diseases.

Potters Syndrome describes the  typical physical appearance caused by pressure in the womb due to low or no amniotic fluid. Some medics feel that Potters Sequence is a more appropriate name for the condition because not every individual has exactly the same set of signs and symptoms but they share a common chain of events leading to the same endpoint of reduced or absent amniotic fluid.

When a lady is pregnant the fetus's kidneys develop between 5 to 7 weeks gestation.
The production of urine becomes ongoing at around week 14. 
The urine is recycled by the baby swallowing it whilst in the womb. If there is a disease that impairs the production of urine causing oligohydramnios and diseases that effect fetal swallowing, such as oesophageal atresia,  this can then cause polyhydramnios.
It is the amniotic fluid that helps with the development of the baby's lungs, without it the lungs will not become fully developed (pulmonary hypoplasia) resulting in respiratory distress at birth.
This is usually the cause of most deaths from Potters Syndrome.

There are 4 classifications of Potters Syndrome:

Type l -   Due to autosomal recessive Polycyctic Kidney Disease.
Type ll -  Usually due to Renal Agenesis or Hereditry Renal                             Adysplasia. Bilateral Renal Agenesis is the most extreme                 form.
Type lll - Due to autosomal dominant Polycystic Kidney Disease
Type lV - Due to chronic obstruction of the kidneys or ureter                            resulting in cystic kidneys.

 Some of the symptoms of Potters Syndrome are :

 - Receding chin, flattened nose, low set ears and lots of epicanthal      folds.
 - Skeletal deformities, anomalies of the limbs e.g Club foot
 - Difficulties in breathing
 - Dilated ureters, poor or incomplete abdominal wall, undescended     testicles, distended bladder
 - Cardiovascular defects such as Tetralogy of Fallot, incorrect             heart positioning
 - Eye defects such as Cataracts, lens prolapse
 - Lack of urine

At the present time there are no successful treatments or cures for Potters Syndrome. It is currently seen as a death sentence. There are a few doctors undertaking research into the condition and hopefully one day they will have a treatment that will enable babies to survive.

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