Sunday, November 23, 2008

Potter's Syndrome/Sequence

Potter's Syndrome--perhaps more accurately referred to as Potter's Sequence as it refers to the pathophysiologic consequences of lack of kidney function in utero--is characterized by absence of renal function, oligohydramnios, pulmonary hypoplasia, and a characteristic "Potter's facies", in which there is a flattened nose, recessed chin, prominent epicanthal folds, and low-set abnormal ears. In addition to other serious cardiovascular, ophthalmologic, and skeletal malformation, Potter's Syndrome also occurs frequently with sirenomelia (a.k.a. "mermaid syndrome", as pictured in the X-ray above.

Any form of severe renal dysfunction in utero can be the root cause of Potter's Syndrome. More common causes include bilateral renal agenesis, autosomal recessive polycystic kidney disease, and congenital obstruction/hydronephrosis. When the kidneys do not produce urine, there is oligohydramnios (since fetal urine production accounts for the majority of amniotic fluid during the 2nd and 3rd trimesters of pregnancy). Since amniotic fluid is also responsible for proper alveoli expansion, these patients commonly get pulmonary hypoplasia and potentially serious respiratory problems at birth.

The syndrome is named after pathologist Edith Potter, who initially characterized this sequence of events.

2 comments:

Ryanne said...

Is there a name for a Potters Syndrome (with COMPLETE absence of kidneys AND the tubes/vessels that would connect them) feature similar to Sirenomelia dipus (two feet)...but where the legs appear twisted together?

Also, do you know if it has been decided whether genes or hereditary aspects are involved in these syndromes?

It has been 16 years since my little Angel was born, and lived for 18 minutes. Back then, we were told it was just a "freak thing" involving no genetics, and not being hereditary. But now, I am reading conflicting reports...

My 14 year old is having kidney pain...and his pediatrician says she cannot schedule an ultrasound based on his sibling having bilateral renal agenesis...unless we can show whether her specific case was heditary or familial...

Any advice, info,opinions or mere guesses would be appreciated, and will not be taken as medical advice. :)

THANKS YOU!

Anonymous said...

My daughter (she would be 13 this yr) had potters "sequence" syndrome. God allowed her to live 2 1/2 hrs - I was able to come to after they put me to sleep following delivery & I was able to hold her hand before she passed on to Heaven. She had kidneys but they didn't function on their own. Genetics testing determined that it is a chromosome problem that it occurs at conception. One link of a chromsome was removed from a chain and attached itself to another chain of chromosomes in a pair resulting in an uneven pair. We were told there was a 50/50 chance of it occuring again. There is no way to avoid it occuring again but no way to determine 100% that it will occur again. We were told we could have 2 healthy pregnancies and #3 could be the same as our beautiful daugher. My husband and I went thru a divorce yrs after our loss - we had trouble concieving after her - I now have two healthy children after I remarried & my ex spouse also remarried and has a son that is fine also.