Dr. House, MKSE and Rare Diseases – Part 2
The vitreous bone disease is hereditary, in which the bones on the one hand break as easily as glass, on the other hand in the X-ray image also have a glassy structure.
Symptoms: Extreme bone fragility, blue sclera (dermis of the eye), deafness, distensible joints, severe sweating, myopia, skeletal deformities, also scoliosis (others are possible as well).
Congenital gene mutation where dysfunction of the diencephalon causes physical, metabolic, and cognitive symptoms.
Symptoms: Muscle hypotonia (lack of muscle strength and muscle tension), massive weight gain, dilochocephaly (asymmetric long, narrow skull shape), short stature, developmental delay (and more possible).
Systemic lupus erythematosus
An autoimmune disease in which the body’s immune system is not only directed against bacteria, viruses and cancer cells, but also against the body’s own cells due to dysregulation.
Butterflies’ erythema (reddening of the bridge of the nose over the cheekbone and cheeks), tiredness, fatigue, hair loss, rheumatoid joint pain, chronic renal insufficiency (kidney failure), vasculitis (inflammation of the small blood vessels), epileptic seizures (and many more possible).
Inherited disease in which gene mutations disturb copper metabolism in the liver.
Symptoms: Liver enlargement, fatty liver, liver cirrhosis, Kayser-Fleischer-Kornealring (golden-brown to greenish border around the iris), flapping tremor (involuntary, jerky twitching of the extremities), osteoporosis (and others possible).
German dr. House
Even if Dr. House only springs from a television series, a counterpart is also available in Germany. The technicians health insurance and picture on Sunday selected Dr. med. Jürgen Schäfer (cardiologist at the University of Marburg) to the Doctor of the Year 2013. Already in 2008, he started on the basis of just that US television series “Dr. House “to explain his medical students difficult medical cases. He himself has already diagnosed many a severe case with a rare disease.
In Germany live about 4 million people who suffer from a rare disease. According to the EU definition, the 7,000 to 8,000 diseases are rare because no more than 5 in 10,000 people suffer from this disease. The MKSE (Central German Competence Network for Rare Diseases) wants to help here and passes on suitable special facilities.
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