Kidneys: renal tubular acidosis (Type 2), a disorder of bicarbonate handling by the proximal tubules leads to nephrocalcinosis (calcium accumulation in the kidneys), a weakening of bones (due to calcium and phosphate loss), and occasionally aminoaciduria (loss of essential amino acids needed for protein synthesis). Heart: cardiomyopathy (weakness of the heart muscle) is a rare but recognized problem in Wilsons disease; it may lead to heart failure (fluid accumulation due to decreased pump function) and cardiac arrhythmias (episodes of irregular and/or abnormally fast or slow heart beat). Hormones: hypoparathyroidism (failure of the parathyroid glands leading to low calcium levels), infertility, and recurrent miscarriage. Genetics
The Wilsons disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. The gene codes for a P-type (cation transport enzyme) ATPase that transports copper into bile and incorporates it into ceruloplasmin. Mutations can be detected in 90% of cases. Most (60%) are homozygous for ATP7B mutations (two abnormal copies), and 30% have only one abnormal copy. Ten percent have no detectable mutation.Although 300 mutations of ATP7B have been described, in most populations the cases of Wilsons disease are due to a small number of mutations specific for that population. For instance, in Western populations the H1069Q mutation (replacement of a histidine by a glutamine at position 1069 in the protein) is present in 37–63% of cases, while in China this mutation is very uncommon and R778L (arginine to leucine at 778) is found more often.
Trigonitis is a condition of inflammation of the trigone region of the bladder. It is more common in women.The cause of trigonitis is not known, and there is no solid treatment. Electrocautery is sometimes used, but is generally unreliable as a treatment, and typically does not have quick results. Several drugs, such as muscle relaxants, antibiotics, antiseptics such as Urised, have varied and unreliable results. Other forms of treatment include urethrotomy, cryosurgery, and neurostimulation. References


== External links ==