Gitelman's Syndrome, need advise

[sam52]

I was diagnosed with Gitelmans 7mos.ago. I cannot find much information....I would love to chat with someone who also has this syndrome. Anything would be helpful and appreciated.

[Sweetypie]

Hi, I was diagnosed with it in 2003. What has your Dr. done/doing for your? And what type of Dr. are you seeing for your care of it? If you have any questions, just ask.

Anna

[PLash561]

I was diagnosed with gitelman's on the 20th of May. I am currently taking Spironolactone & Mag-Oxide. I feel very tired, weak all the time. there is not much out on the internet about this condition, so if you get any information that's great. I also experience blurry vision and am lightheaded. Are you going to a nephrologist? If not it probably would be a good idea since regular internists don't really know a whole lot about gitelman's. From what I have seen it takes quite a while to start feeling better and the key is getting dosages right on the meds. I haven't been on the meds long enough yet to feel a difference. It is very hard for me to even get out of bed in the morning and when I get home from work I have no energy to do anything. If you have found any information I'd really appreciate you posting. Thanks.

[Sweetypie]

I have been seeing an endocrinologist, which is actually the dr that figured out what was wrong with me. My primary (who isnt my primary anymore..stupid ****) just kept blowing it off as me being dehydrated! I had had 3 episodes of my postassium going low and the last time in 2002, my levels were 2.3 and my magnesium was low also (which hurt like heck when the attack came on).

I occasionally read up on it to see if anything new has come out, or if Ive missed anything. I recently came across this site, http://barttersite.org/what-is-gitelmans-syndrome/ and it had a few things I havent read about before. Also, make sure to read about Bartter's, since they are closely related.

I started out taking spironolactone, 50mg, twice a day and Klor Khon (potassium) 20meq, twice a day. But over the last year and a half, Ive managed to lose 40 pounds and keep it off. And have cut out the spironolactone, and only take the potassium once or twice a day. Something about the weight loss (I think) has really helped with my body holding onto potassium more, which is nice. Right now I only take it once a day, but sometimes I'll go through periods of where it seems my potassium gets low more frequently, so I take it twice a day.

Im still tired a lot, but try to take as many naps as I can when possible. Im tired of being tired, so Im still figuring out how to beat the tiredness, Im getting better at not being so tired. Like taking a power nap of 30-45min...which most of the time, is better than a 2 hour nap (but I still love 2 hour naps..;c})

Im thirsty all the time (and of course pee all the time too because of it), and when Im home, Im constantly drinking something, or if Im out and about, I always need something to drink (normally water, cause I've found drinking lots of sodas and this syndrome arent friends!!! ;c}). I found the more soda I drank, the faster my potassium went down, for some reason!! So when I decided to lose weight, I cut out sodas to once a week, and just drink water or Powerade. Plus powerade has potassium, so thats even better to me!!!

I found on that site some symptoms of Gitelmans and Bartters and constant thirst was one of them, which finally put to rest my constant wondering why Im thirsty all the time. It said a lot of things that made sense that I hadnt read about before either. Also about how it is hereditary and explanations about all that. I've also got heart problems, but have been able to finally tell when my potassium is low, compared to my heart acting up. I just dont think about it much anymore, unless I can tell my potassium low. I dont let it run my life. I run its life. Kind of no different than when I get a migraine. I just take something for it and eventually, its better. And as long as I stay on top of it, Im fine and perfectly healthy.

I find lots of sites on it, some help, some dont. Sometimes I'll sit for hours looking for something about it, usually it pays off, but occasionally I just find the same old thing as the last time. It took me awhile to actually find symptoms of Gitelmans, which you would think be easy. I kept coming across Bartters symptoms, but finally found one site with Gitelmans symptoms. They are pretty close, but a few things are different.

And if you dont already know or have read, Gitelmans is passed from each parent. The site above explains it. I called my mom and dad and made sure to tell them thanks!!! HAHAHAHAHA!!!!!!!!!!!

[PLash561]

Sweetypie,
what did it feel like when you were having the attacks? Also why an Endocrinologist instead of a Nephrologist? I've noticed a couple of other people on boards that have gone to an Endocrinologist too, I'm just curious. It's really strange how this disease works it's been very stealth like most of my life, I'm 48 and I know now that I've had symptoms for years and just never put 2 and 2 together. I've just thought that my being overweight and out of shape the last few years has been the reason, now I realize that what's going on in my body has helped my body hold on to the weight and gain more and hurt all the time. My dr. tried treating me for everything from anemia to depression. I've had heart palpitations to the point that I thought I was having panic attacks, I own my own business and thought it was all stress. I should have listened to my body, I've always handled stress pretty well, never really freaked out about stuff. I'm really hoping that I will feel better soon, it's really difficult trying to run my business and deal with this too. I've also addeda broken foot to the mix 7 weeks ago so I've been in an aircast boot, hopefully I'll be rid of it next week. Do you have siblings and if so have the been tested? I have a sister and brother, both have kids and grandkids. I have 3 children and 2 grandsons, so far they are all ok. I hope it passedthe rest of my family, they hopefully will be tested soon. It sounds like you have a sense of humor about this with your parents, that's great, I'm sure they hate watching you have to deal with it. Take care and if you think of anything else, I'm interested. There is another board I've been on at www.healthboards.com, just type in gitelman's, you'll see some interesting things on there. Some of the people have been dealing with this for quite a while and have some good info. Thanks.
Patti

[Sweetypie]

The first time I had an attack, I thought it was the heart problem I had fixed years ago, coming back. I was home alone too with a 6mo old. All of a sudden I started feeling faint and my heart was racing and the room started to black out, but I tried my hardest to keep from passing out and it finally stopped and I called my husband who was at my moms helping her with something and while I was on the phone I had another attack. When we went to the hospital they said my potassium was low. This happend two or three more times and the third time my muscles in both my arms tightened so hard my arms just curled...it hurt so bad. My arms hurt for several days after that..like Id worked out or something. I found out that last time it happened and my arms tensed up that my magnesium was low and thats why that did that. And my level was 2.3. But now it stays between 3.5-4.3.

I see an endocrinologist because I was seeing him for another potential prob. that turned out to be nothing. I mentioned it to him and he was interested as to why I was losing it. So he did all sorts of tests and so Ive just stayed with him. I also found out about 2 or 3 yrs ago that I have several cysts in my thyroid, so I see him once a year for that and my gitelmans. I already have to see a heart dr, then the gyno., plus my primary to check on my thryoid also, so the less dr.s I have to see the happier I am! LOL

My sister has something similar, but her ins. changed in the middle of them trying to figure it out, but they said it wasnt gitelmans, but also didnt know what it was. I still just think its the same thing. When her stuff gets worked out, she'll go back to find out for sure. She has problems retaining potassium also, but her dr. told her that she had something else, or didnt know. She also told me that I should get checked by another dr because sometimes dr.s diagnose gitelmans when its not. But since Ive been on medication, Ive had no more problems. If I was still experiencing problems then Id look into it. So Im not worried. Other than that, the only thing that my family shares is the heart problems. But as long as I take care of myself, Im good.

Im definitely going to keep my eyes out for my kids, but I still dont know "when" to look for signs in younger ones. Mine didnt show up till I was 26. So I dont know if checking my kids now would show anything. I know they are more likely to be carriers because I have it, but unless they married someone else that was too, I think the chances of passing it to their kids, is small, but then again, my parents found each other and passed it on to me!! YIPPEE!!! That and the heart problems. LOL I figure I wont let this stuff bother me. Im a quick fix kinda girl, I want the problem fixed qicklyso I can get back to life. LOL ;c}

I'll check out that site. I definitely like learning more about this thing.

[ericsmom]

I was diagnosed with Gitelmans 7mos.ago. I cannot find much information....I would love to chat with someone who also has this syndrome. Anything would be helpful and appreciated.

My 10 year old son was diagnosed with Gitelman's 4 years ago. He sees a Pediatric Nephlologist every 6 months. For the first two years we ranged from having his blood drawn 4 times a week to once a week. Now, we have it drawn to check his potassim and magnesium level whenever he is sick or if we notice that symptoms are worse (such as overly tired or weak, very emotional or suffers from severe headaches for more than two days). He is currently taking Amiloride, Potassium and Magnesium as well as Pepcid and an antinausea medication. The high does of pot. and mag. have caused ulcers (Pepcid) and he is nauseous most mornings when he wakes up.

I found the best information, in terms that we could understand, on wrongdiagnosis.com Type in hypokalemia.

I hope this helps.

[PLash561]

Sweetypie, how are you feeling? Me, not so good. I spent from July 31st-Aug 3rd in the hospital. My potassium went down to 2.7 literally overnight from 3.7, my magnesium was very low too. So I was on iv's most of the time, boy that potassium sure hurts going in. I went ot the emergency room that Friday feeling very disoriented, nauseous, dizzy, heart racing, the whole shabang. They thought at first I was having a heart attack, did the ekg and ruled that out. On to bloodwork where they found how low my potassium & magnesium was. I'm still feeling very weak and dizzy but the dr. upped all my meds and I'm hoping they will be the right combination for me. I hope all is well with you. Tell me again the meds you're on-I need to compare. Thanks.
Patti

[alsonotadoctor]

I was diagnosed with Gitelmans 7mos.ago. I cannot find much information....I would love to chat with someone who also has this syndrome. Anything would be helpful and appreciated.

Gitelman’s syndrome
Cause:
Is an inherited renal tubular disorder = renal meaning kidney and tubular meaning in this case a really small tube. (4)
“Gitelman’s syndrome is caused by mutations of the SLC12A3 gene on chromosome 16q13, encoding the renal thiazide-sensitive sodium chloride cotransporter NCCT (also called TSC, thiazide-sensitive cotransporter) [33, 34] NCCT is responsible for the sodium reabsorption in the distal tubulus,” (3)
To understand the disorder a little better it helps to know a little bit about the kidney.
There are 2 kidneys in the human body. The kidneys produce urine as well as influence “the regulation of electrolytes, acid-base balance, and blood pressure. In producing urine, the kidneys excrete wastes such as urea and ammonium; the kidneys also are responsible for the reabsorption of glucose and amino acids. Finally, the kidneys are important in the production of hormones including vitamin D, renin and erythropoietin.” (2)
In knowing what the kidneys help regulate, it also gives a quick overview of what can be effected if the kidneys are not working properly.
Gitelman’s syndrome is a disorder that “causes the kidneys to pass sodium, magnesium, chloride, and potassium into the urine, rather than allowing it to be resorbed into the bloodstream.” (1)
Bartter Syndrome is a disorder usually mentioned when talking about Gitelman syndrome. It is not the same syndrome, since Bartter syndrome is “a rare inherited defect in the thick ascending limb of the loop of Henle.” (1)
Gitelman’s syndrome can present with
low blood pressure
hypokalemic metabolic alkalosis in addition to hypomagnesium and decreased removal of calcium in the urine
(hypokalemic = low potassium) (metabolic alkalosis = elevated blood pH levels out of normal range((5)) (hypomagnesium = low magnesium)(magnesium levels may appear normal early on in the disease process(3)).
(magnesium levels are usually within normal range for patients who have Bartter’s syndrome). (4)
In comparison with both types of Barrter syndrome, Gitelman’s syndrome is less severe. Most patients will be diagnosed due to an irregular blood test result during adolescence.
Signs and symptoms of Gitelman’s syndrome:
Muscle cramps
Muscle weakness
joint pain
nocturia (having to urinate duringthe night and disturbing the patients sleep)
nocturnal enuresis (involuntary urination at night)
polydipsia (extreme thirst), polyuria (excessive urination amount),
Hypotension (low blood pressure)
Dizziness
salt-craving
“Chondrocalcinosis with swelling and tenderness of the affected joints has also
been reported” (chondrocalcinosis = radiographic evidence of calcification in hyaline and/or fibrocartilage. (6))(calcification = calcium builds up in tissue and then hardens)
“prolongation of the QT interval on electrocardiogram in
40 % of patients.”
End stage renal failure has occurred in some cases. (3)


References:
(1) Gitelman syndrome. (2009, June 9). In Wikipedia, The Free Encyclopedia. Retrieved 01:00, June 9, 2009, from http://en.wikipedia.org/w/index.php?title=Gitelman_syndrome&oldid=295286205

(2) Kidney. (2009, August 16). In Wikipedia, The Free Encyclopedia. Retrieved 17:28, August 16, 2009, from http://en.wikipedia.org/w/index.php?title=Kidney&oldid=308324072

(3) Naesens, M., Steels, P., Verberckmoes, R., Vanrenterghem, Y., & Kuypers, D. (2004, March). Bartter’s and Gitelman’s Syndromes: From Gene to Clinic. Nephron Physiology, 96(3), p65-p78. Retrieved August 17, 2009, doi:10.1159/000076752

(4) Károlyi, L., Ziegler, A., Pollak, M., Fischbach, M., Grzeschik, K., Koch, M., et al. (1996, September). Gitelman’s syndrome is genetically distinct from other forms of Bartter’s syndrome. Pediatric Nephrology, 10(5), 551. Retrieved August 17, 2009, from Academic Search Complete database.

(5) Metabolic alkalosis. (2009, July 26). In Wikipedia, The Free Encyclopedia. Retrieved 23:09, July 26, 2009, from http://en.wikipedia.org/w/index.php?title=Metabolic_alkalosis&oldid=30437291 5

(6) Chondrocalcinosis. (2009, August 5). In Wikipedia, The Free Encyclopedia. Retrieved 05:52, August 5, 2009, from http://en.wikipedia.org/w/index.php?title=Chondrocalcinosis&oldid=306156893

[Sweetypie]

Hi Patti. I take Klor-Con, 20 Meq. 2x a day. I was also prescribed Spironalactone, but dont take that anymore as Ive noticed with weight loss that I hold my potassium a little better...(maybe it has nothing to do with it). I just noticed that I can go at least two days (if Ive forgotten my meds by going out of town...otherwise...I take them faithfully). Anymore than two, and that is pushing it...My heart starts messing with me. Before the weight loss I couldnt go a day without it...after the first day, I was a mess. My dr. did give me the option to take it 3x a day, and that is what the prescription is for...but I only need it really once a day but do take it twice...occasionally 3 times...but that is pretty rare.

How are things with you??

Anna