Name that disease please.

August 19, 2008 3:43 PM

I need to find out the name of the uncommon kidney disease that my mother had so that I can be tested for it. The problem is she died in 1997 so I have no idea where (or if) any medical records are being kept. Can anyone tell me how to find out? Details and a description of the disease inside

About 3 years before she died my mother started having serious problems with her immune system. She was catching pneumonia serious enough to be hospitalized and on a ventilator. After massive doses of antibiotics she’d get better and be sent home, only to repeat the cycle a few months later. Eventually a pulmonologist started her on monthly IV infusions of a medication called Gammagard S/d to boost her immune system. The medication was working, she didn’t get sick for again for nearly 2 years. One month when she wasn’t able to get her Gammagard infusion. (The details are a little sketchy here but for some reason none of the pharmacies we could contact had a supply.) My mother got sick again and was hospitalized, her lungs filled with fluid, her heart stopped and eventually she was unconscious on a ventilator again and in intensive care. My mother was in this state for a month before she finally died. During that month for some reason a nephrologist was called in on her case and eventually she was diagnosed with having a kidney disorder that was causing this problem with her immune system. Too little too late of course but at least the cause was found. I need to find out what the name of this disease is, or what her official diagnosis was so I can be tested for it.

Does this disease ring a bell for any of you? Alternately, do any of you know who I can contact that may still have records for her from that long ago? I know the name of the hospital and her primary care physician, but this happened in Ohio and in that state they don’t keep medical records for more than 11 years. Cause of death on her death certificate was listed as congestive heart failure, no help there.

posted by Kioki-Silver to health & fitness (11 comments total)

Are you absolutely certain that the kidney disease was causing the auto-immune problems and not that she had an auto-immune disease causing kidney problems?
posted by Justinian at 4:04 PM on August 19, 2008

IANAD.

Are you sure you remember it right? It seems the Gammagard was in use before the kidney problems became known, from your description. There is, therefore, a possibility that the kidney problems were an adverse reaction to Gammagard.

From the Gammagard website (here):

"Immune Globulin Intravenous (Human) products have been reported to be associated with renal dysfunction, acute renal failure, osmotic nephrosis, and death. Patients predisposed to acute renal failure include patients with any degree of pre-existing renal insufficiency..."

Do you have any way of knowing whether the kidney problems pre-dated the use of Gammagard? If so, it could still have had an exacerbating effect.

Either way, you may not be dealing with an uncommon kidney disease, so much as an adverse reaction.

But if you are, you should consult an expert in renal diseases.
posted by blue_wardrobe at 4:04 PM on August 19, 2008

I'm not sure, but I believe you might be referring to IgA nephropathy, which may be an autoimmune disease, and has apparently been associated with a lung disease called bronchiolitis obliterans, as well as sarcoidosis (which Bernie Mac recently died due to complications from.)
posted by peggynature at 4:14 PM on August 19, 2008

(Or rather, Bernie Mac *had* sarcoidosis. Not sure if his fatal pneumonia was actually related to it.)

Good luck.
posted by peggynature at 4:15 PM on August 19, 2008

There are several auto-immune diseases with a lung and kidney component. Wegener's granulomatosis and Goodpasture Syndrome come to mind. From the description I'd go more goodpasture's (aka anti-GBM syndrome).
posted by a robot made out of meat at 4:20 PM on August 19, 2008

Couldn't hurt to call her primary care doctor and see if s/he remembers. Or call her insurer and see what records they have.
posted by gjc at 5:06 PM on August 19, 2008

call the doctor/hospital. the insurance company is probably not permitted to release the information, but i bet the doctor can probably find a way to skirt patient confidentiality and inform you. like they can't say she had X, but rather that based on your family history, it would be highly recommended that you be tested for X.

alternatively--annoyingly--you could probably secure a court order for the doctor to release the information (if their hands really are tied by privacy issues, it may be what it takes, but i imagine any doctor would cooperate under the circumstances for the sake of your health).
posted by thinkingwoman at 6:37 PM on August 19, 2008

also, if none of the above works, call the patient advocate/ombudsman/family services coordinator at the hospital where your mother died, and see if they can help. they're great problem-solvers.
posted by thinkingwoman at 6:38 PM on August 19, 2008

i can't help you out with a diagnosis, but i would suggest you try to find the doctor. my father died of complications from a kidney transplant (cleveland clinic) in 1965. my sister tracked down his doctor about 3 years ago. transplants were far less common then, which might account for why the doctor remembered the case so well, even though he was somewhat reluctant to talk to my sister. (not because of confidentiality issues, but because he was afraid she was going to be accusatory given that his transplant was done while it was still considered to be highly experimental.) she not only got the information she needed for herself and her daughter, who both have the same condition my father had, but she also got some closure.
posted by msconduct at 7:23 PM on August 19, 2008

Gammagard is IVIg. If they were giving her this (and she was prone to chronic infections like you mentioned), it was probably because she had hypogammaglobulinemia and they wanted to boost her immunoglobulin levels to fight infections. You can be hypogammaglobulinemic for a whole host of reasons, but if you are certain that the cause of her problems was her kidneys, then she probably had one of the diseases which causes nephrotic syndrome. Which is a condition where your kidney fails to retain most of your smaller blood proteins (including immunoglobulins and albumin) and you piss them out. There are a bunch of disease which cause nephrotic syndrome, most commonly in adults is focal segmental glomerulonephritis (FSGS). Almost as common is membranous glomerulonephropathy. Although, to be perfectly honest, this is not the kind of course you usually seen in chronic kidney diseases which cause nephrotic syndrome. Typically, the patients go on to end stage renal disease and wind up on dialysis.

She may have had a kidney biopsy along the way so you could contact the pathology department of the hospital where she was and they could look it up. This is probably going to be the best way to find out exactly WHICH disease was responsible. Alternatively, they may still have her inpatient records at the hospital. Be prepared to demonstrate that you are the next-of-kin and have a right to see her protected health information (go HIPAA!!).
posted by i_am_a_Jedi at 8:12 PM on August 19, 2008

Jedi: is there Ig-selective nephrotic protien loss? If you had nephrotic syndrome, wouldn't IVIg be pretty useless as you'd pee it out? I guess it could be a low-rate loss but her immune system can't keep up with a low-rate loss?. The story seems to require both a nephrotic component and an Ig production deficit.

IVIg was used investigationally for a variety of vasculitities, still is for Kawasaki (I think).
posted by a robot made out of meat at 11:41 AM on August 20, 2008