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Air trapping is common and leads to increased residual volumes. As the disease progresses, a mixed pattern of obstruction and restriction may develop. In general the obstructive lung disease is slowly progressive with periods of stability. [8]
Nephronophthisis is a genetic disorder of the kidneys which affects children. [3] It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.
The life expectancy of individuals with MPS VI varies depending on the severity of symptoms. Without treatment, some individuals may survive through late childhood or early adolescence. People with milder forms of the disorder usually live into adulthood, although they may have reduced life expectancy. Heart disease and airway obstruction are ...
The onset of symptoms tends to be fairly gradual and to occur over 1-12 years. [citation needed] Symptoms of Hashimoto's encephalopathy may include: [citation needed] Personality changes; Aggression; Delusional behavior; Concentration and memory problems; Coma; Disorientation; Headaches; Jerks in the muscles (myoclonus – 65% of cases)
Morvan's syndrome is a rare, life-threatening autoimmune disease named after the nineteenth century French physician Augustin Marie Morvan. "La chorée fibrillaire" was first coined by Morvan in 1890 when describing patients with multiple, irregular contractions of the long muscles, cramping, weakness, pruritus, hyperhidrosis, insomnia and delirium. [1]
The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests. [2] Treatment of lung disease may include bronchodilators, inhaled steroids, and, when infections occur, antibiotics. [2] Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended. [2]
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]
Calciphylaxis, also known as calcific uremic arteriolopathy (CUA) or “Grey Scale”, is a rare syndrome characterized by painful skin lesions.The pathogenesis of calciphylaxis is unclear but believed to involve calcification of the small blood vessels located within the fatty tissue and deeper layers of the skin, blood clots, and eventual death of skin cells due to lack of blood flow. [1]