I'm sorry I don't have any information on this. I'm new to the whole world of kidney problems myself (my kidneys have been bleeding since end of July). I know how distressing all this can be when you know there's a problem but not sure what's going on. Sounds like you've been reading up on it. are there any treatment plans mentioned?
Not really. Lots of medications but once the damage is done, it is done. It is very painful.
Cystinuria is a cause of persistent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine, and is one of many causes of kidney stones. If not treated properly, the disease could cause serious damage to the kidneys and surrounding organs, and in some rare cases death. The stones may be identified by a positive nitroprusside cyanide test. The crystals are usually hexagonal, translucent, white. Upon removal, the stones may be pink or yellow in color, but later they turn to greenish due to exposure to air.
Cystinuria is an autosomal recessive disease, which means that the defective gene responsible for the disease is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disease. The parents of an individual with an autosomal recessive disease both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disease.
Under normal circumstances, this protein allows certain amino acids, including cysteine, to be reabsorbed into the blood from the filtered fluid that will become urine. Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria are able to form, resulting in kidney stones. Cystine crystals form hexagonal-shaped crystals that can be viewed upon microscopic analysis of the urine. The other amino acids that are not reabsorbed do not create crystals in urine. The disease affects 1 in 10,000 people, making it the most common genetic error of amino acid transport. Cystinuria is inherited in an autosomal recessive pattern.
Cystinurics can also experience chronic pain in one, or both, kidneys due to the scars that the jagged edges of the stones can leave or damage from multiple stone removal surgeries. This can leave a cystinuric in constant pain which often requires medical intervention, such as long term use of analgesics or surgical procedures, including T11, T12 or T13 nerve blocks (although, these procedures are often not successful, they can provide some relief). Aside from the chronic pain, a cystinuric will often have severe breakthrough pain from passing stones. This type of severe pain, if not properly treated, will force the cystinuric to seek help in an Emergency Department or Urgent Care facility. Since most cystinurics pass stones monthly, weekly, or daily, and need ongoing care, this usually causes medical staff to label these patients as drug seekers or hypochondriacs. Cystinurics have an increased risk for chronic kidney disease and since kidney damage or poor function is often present in cystinurics, the use of nonsteroidal anti-inflammatory drugs (NSAIDs) or over the counter (OTC) medications should be used with caution. This leaves the patient with little choices regarding pain control and can lead to insufficient medical intervention by physicians.
Cystine stones are often not visible on most x-rays, CT's, and ultrasounds. This does not mean the cystinuric doesn't have a stone. It takes a trained eye and experience to spot a cystine stone. It is not unusual for a cystinuric to pass a stone, or stones, after being released from the hospital with a CT or x-ray result of no stones in the kidneys.
Wow. That is not great news. I've heard of people complaining about how horrid it is to pass a stone. But to have stones forming constantly is unthinkable.
The part that caught my eye was near the top: "If not treated properly, . . . " So that must mean there's a treatment option available. Something more than pain relief I hope. Since it's genetic and the body is having trouble processing the cysteine, a kidney transplant (very extreme measure) doesn't seem like an option either. I'm guessing they would be damaged as well.
I assume you're in touch with a nephrologist that may have some answers. If not, keep asking and pushing if you can. This sounds like more than a common stone problem
yes, it is overwhelming. Treatment is medication. 12 pills at a time 4x a day. They are also hoping that they can do lithotripsy to loosen some of the calcification built up on the kidneys. That should help with the pain.
Aarrgh. I don't know how they do that but it sounds painful. Hugs to you all.