Porphyria are a large group of hereditary diseases characterized by a violation of heme biosynthesis and the accumulation of its toxic metabolites. Clinical manifestations are extremely diverse – from photosensitivity and skin rashes to abdominal pain, complete paralysis and acute psychosis. Diagnostics is carried out using molecular genetic tests, special laboratory methods for determining porphyrins and…
Pycnodysostosis is a hereditary disease belonging to the group of lysosomal accumulation diseases, accompanied by compaction of bone tissue, increased fragility of bones and cranioclavicular dysostosis. Symptoms of this condition are low growth of patients, characteristic facial changes (enlarged nose, hypoplasia of the lower jaw, protruding occipital and frontal tubercles), frequent pathological fractures. Diagnosis of…
Familial mediterranean fever is a genetic pathology characterized by a violation of the regulation of inflammatory processes, especially in the area of serous (peritoneum, pleura) and synovial membranes. The manifestations of this disease are different, abdominal pain (picture of acute peritonitis), disorders of the pleural cavity, attacks of fever, soreness and swelling of the joints…
Primary systemic carnitine deficiency is a genetic disease caused by a violation of the metabolism of this substance, leading to an increase in its loss by the body with urine. Manifestations depend on the form of pathology – patients may have appetite disorders, hepatomegaly, lesions of the central nervous system and heart. Diagnosis is performed…
Primary pulmonary hypertension is a hereditary pathology characterized by increased pressure inside the pulmonary artery and increased general pulmonary vascular resistance. It is manifested by shortness of breath, increased heart rate, unproductive cough, loss of consciousness, chest pains, intolerance to physical exertion, edema, hemoptysis. Instrumental methods of examination of the heart and blood vessels are…
Pachydermoperiostosis is a genetically heterogeneous disease that manifests itself as a complex lesion of the skin, joints, bones and a number of internal organs. Symptoms of this condition are hyperplasia of all layers of the skin, hyperhidrosis, disorders of the cardiovascular system, deformation of the distal phalanges of the fingers like “drumsticks”. Diagnosis of pachydermoperiostosis…
Oculopharyngeal muscular dystrophy is a hereditary disease that has both an autosomal dominant and an autosomal recessive variant of inheritance, characterized by a predominant lesion of the muscles of the face and head. Symptoms of this condition are swallowing disorders (dysphagia), ptosis of the eyelids, weakness of facial muscles and ophthalmoparesis. Sometimes general muscle weakness…
Oxalosis is a rare hereditary disease characterized by excessive formation of oxalic acid and accumulation of its salts (oxalates) in organs. The pathology is manifested by interstitial nephritis, the formation of kidney stones, the deposition of calcium salts in the renal tissue, periodic attacks of renal colic and the gradual development of chronic renal failure.…
A bad habit causes even more damage to the heart than previously thought. This conclusion was reached by scientists from the University of Copenhagen. For decades, researchers have known that smoking provokes blockage of the arteries, and this is a direct path to heart attacks and strokes. A study involving almost 4,000 people showed that…
Fanconi syndrome is a hereditary kidney disease characterized by damage to the epithelium of the distal tubules and the nephron loop, which leads to impaired excretory functions and numerous secondary pathologies. Symptoms of this condition are polyuria of a hypotonic nature, hypochromic anemia, skeletal lesions, azotemia develops at the terminal stages. Diagnosis includes ultrasound examination of…
