Wilson’s disease: Aetiology and symptoms

Wilson disease (WD) is an autosomal recessive inherited disorder caused by dysfunction of the copper transporter ATP7B, which is expressed mainly in hepatocytes and is critical for hepatic copper homeostasis. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces protean clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological, and other derangements,

It has been estimated that there are ~600 cases of Wilson’s disease in the United States and that ~ 1% of the population are carriers.

Wilson’s disease may present symptomatically at any age, although the majority presents between ages 5 and 35. The youngest patient reported with cirrhosis due to Wilson’s disease was 3-years-old. Many patients have a combination of symptoms. WD often presents in children as chronic liver disease with abnormal liver tests. Liver pathology ranges widely, from hepatic steatosis to acute and chronic hepatitis to cirrhosis. As WD progresses, many patients develop complications of portal hypertension and liver failure. Acute liver failure (ALF) due to WD develops in about 5% of patients.

Patients with WD are more likely to present with neurologic or psychiatric manifestations in their second or third decade of life. Some patients have symptoms of liver disease as well. Neurologic symptoms may be subtle or rapidly progressive, leading to severe disability over weeks to months.

The clinical hallmark of Wilson’s disease is the Kayser–Fleischer ring, which is present in 95% of patients with neurologic symptoms and somewhat over half of those without neurologic symptoms. In children presenting with liver disease, Kayser–Fleischer rings are usually absent. Kayser–Fleischer rings are caused by deposition of copper in Desçemet’s membrane of the cornea.
Wilson’s disease: Aetiology and symptoms

Rickets: Disease of growing bone

Rickets is a disease that affects bone structure, resulting in soft and weakened bones and is particularly damaging to the weight-bearing bones in the legs, spine, and pelvis. A similar disease process occurs in adults and is known as osteomalacia, or simply soft bones.

It is characterized by malformed and weak bones because of poor calcium and phosphorous deposition.

Rickets is more likely to occur in children eating a poor diet and living in northern countries, where there is less sunshine. Vitamin D allows the body to absorb calcium from food and makes sure that the calcium is passed from the blood into the bone when the bone is being formed.

Defective mineralization of both bones and cartilaginous material in the epiphyseal growth plate becomes apparent as the child grows.

In rare cases, there may be rickets of urinary origin, where there are excessive urinary losses of either calcium or phosphorus. Vitamin D-resistant rickets is, in most cases, a genetic disorder where excessive phosphate is lost in the urine which reduces the supply available for mineralization of bone.

Rickets was first identified in Europe in the 1600s when the lack of sunlight and meager, unbalanced diet available to working class city dwellers cause an epidemic of rickets until the early 1900s.

Rickets: Disease of growing bone