What syndrome is this

[usmlethinking]

First, what is the definition of syndrome.
Second, what is the difference between syndrome and disease.
Finally, guess what syndrome is this:

A kid with renal failure, congenital cataract, and deafness.

[markglt]

yup, still a disease.... an endocrine disease affecting the exocrine glands, characterized by the production of viscid mucus that obstructs the pancreatic ducts and bronchi, leading to infection and fibrosis.... Hence, the manifestations are pulm, and gi in most, but the disease pathology is still a primary endocrine system disorder.

[Bake Apple]

..........

[markglt]

an outlier......aight ya got me

[RUbrown]

Haha, I love Alports, my friend made up this silly story about it first term, and I still use it to this day.

Al Port (guy, x-linked-R- mutation) has a basket (basket weave appearance under EM of kidney) of Colt 45's (Col 4A5 mutation). He drinks all the beers (beer - foam -> foamy macrophages under histo) and gets really drunk (Beer goggles -> blindness - cataracts; Deafness).

Yeah, I know it's retarded, but I'll always remember it!

[Bluebox8]

Now that's worth a chuckle. Thx.

[offdan]

it's alport's

[Kruno]

that looks like a classic setup for alports.

[magnificentstars]

Agreed with Alport syndrome because it is a genetic disorder that has affected thousands of kids.