FAQ - bartter syndrome
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What is the life expectancy for someone who is 40, with Bartter's Syndrome, and never got treatment for it?

until soon? The person is starting to have kidney stones.

I have no idea, but I can promise the life expectancy will be a lot shorter if this person doesn't get that checked out. It's better to put out a small fire before it becomes a big fire.  (+ info)

What is Bartter Syndrome?

  (+ info)

does anybody have a rare kidney problem called bartter syndrome i was just looking to chat with someone with

i dont know what that is but if u need to talk to some 1 my e mail [email protected]  (+ info)

clinically,Gitemans,s syndrome is distinguished from bartter,s by?

1hypomagnesemia and hypocalciuria
2hypermagnesemia and hypocalciuria
3hypomagnesemia and hypercalciuria
4hypermagnesemia and hypercalciuria

GITELMANS syndrome, is diagnosed as an accident, in young people with mild hipokalemia, hypomagnesemia, hypocalcyuria, metabolic alkalosis, and normal or low blood pressure. (calcium urinary elimination or Sulkovitch test is generally normal)
It is due to the mutation of the gene that controls the absorption of sodium chloride in the sodium chloride cotransported in the DISTAL convoluted tube...
It mimicks tha abuse of high loop diuretics...

Bartters syndrome is a more severe one...(due to deffects in the sodium transportation in the ascending loop of henle)detected from birth, following mental retardation and nephrocalcinosis..., and urinary calcium is normal or high...there is mild hypokalemia, and typically, there is no HYPERTENSION, and magnesium in blood and urine, is typically NORMAL, as it happens in Alports and Conns syndromes ( Hypertension with Hypokalemia with alkalosis)  (+ info)

What is the name of the syndrome that the person may appear to have facial characteristics of down's syndrome?

I previously watched a documentary about sufferers of a syndrome whose facial features appeared to be down's syndrome but it wasn't down's syndrome. The grow to be quite large adults and have special needs. Does anyone know the name of this condition?

Klinefelter syndrome  (+ info)

Are there different types of Down syndrome and what areas of the body does Down syndrome affect? ?

Also, are there any significant statistics related to Down syndrome? Has Down syndrome received any recent attention from the media? Are there any famous people that have Down syndrome.
Answer as many of the above questions as possible.

There are three types of Down syndrome, garden variety Trisomy 21, mosaicism and translocation.

Read more at:

Welcoming Babies with Down Syndrome (English, Spanish, French)

There is a slide show that also incorporates videos of the featured 'More Alike than Different' cast at the National Down Syndrome Congress website:


And great information at the National Down Syndrome Society website:
Down Syndrome Fact Sheet

You might also enjoy

Margaret's Guide to Down Syndrome

For bios of actors with Down syndrome, see:

Down Syndrome and the Acting Gene


DS in Arts and Media


Michael Johnson


Sujeet Desai

Down Syndrome Links at the Family Village website

Check out this recent New York Times article:

The DNA Age: Prenatal Test Puts Down Syndrome in Hard Focus

Have fun with your research!
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What is so bad about having down syndrome?

I think people are a lot colder than they want you to believe. Too many pregnancies prediagnosed with down syndrome are terminated! Doctors tell people that their kid will be like some animal and people believe them. I've met my share of people with down syndrome, and they all seem pretty human to me. On top of that, they were all decent folks, which is a lot more than I can say for the general population. And how does knowing that unborn children are purged because of down syndrome affect those who were born and have down syndrome?

WOW!! I'm so glad that there are other people who's lives have been touched as mine has. See when I was 28 I gave birth to twin girls and one of them was born with Mosaic down syndrome. Of course, I didn't know much about it til now....and yes I was shocked. They are 14 months old now, and such a blessing as well as my two boys. My daughter is about 4 months behind in her milestones, but she is always so happy! Out of all my kids she is the easiest to handle.

It's always nice to have other people, who see that they are more alike, then different from the rest of us.  (+ info)

What is the syndrome called when you cannot feel physical pain?

I remember watching a show a long time ago, and this one little girl was born with a syndrome where she could never feel pain. If she fell on the floor and cut her knee, she wouldn't cry, whereas most children would.

What is this called? Is it a syndrome? Is it a medical condition? I just want to know what it's called, and I can do the research on it.

It is for a story I am writing but I don't entirely know what it is.

It's called "congenital insensitivity to pain"  (+ info)

What syndrome would someone have that the doctor would need to put them on bloodthinners?

My sister is 18 and just moved out here from MN to go to school. She has had many medical problems and been to several doctors. She recently told me that the doctor said there was something wrong with her blood and she needs to be put on blood thinners for the rest of her life. What syndrome could this be?

There are several, but the first that comes to mind is Factor-V (five).  (+ info)

What is the syndrome where boys usually grow more than average?

I think it is Jacobs syndome.. XYY syndrome.. but wikipedia says that is only a little more than average. what is the only where they get really big ?

Yes it is called gigantism. It is caused by a tumour or either a chromosome disorder. Another thing that causes gigantism is the inability to inhib the GH (growth hormone) when it is produced. This is why the people who have it get very TALL.  (+ info)

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