Porphyria - known disease - undiagnosed. 25 years old patient with glomerulonephritis and the first attack of porphyria –clinical case

Abstract

Porphyria is a group of rare genetic disorders caused by an enzyme defect. Porphyria affects the digestive tract, causing abdominal distress; the nervous system, causing psychotic disorder, epilepsy, and weakness; the circulatory system, causing high blood pressure; and the skin, causing extreme sensitivity to light. No specific treatments exist. In porphyria the body accumulates and excretes (rather than utilizes) one or more porphyrins, the pigments that combine with iron to form part of the oxygen-carrying proteins haemoglobin and myoglobin; because of this urine turns reddish brown on standing. They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems or with neurological complications (or occasionally both). The term derives from the Greek πορφύρα, porphura, meaning „purple pigment”. The name is likely to have been a reference to the purple discolouration of some body fluids in patients during an attack. With regard on multitude of symptoms and their unspecificity the recognition of porphyria encounters on large difficulties often. It was the same as described in the 25 year old patient admitted to hospital because of general infectious symptoms. The laboratory examination showed of renal dysfunction and accompanying electrolyte abnormalities and haematuria causeds glomerulonephritis – the patient had a purple color urine. Despite treatment, the diseased condition did not improved and intensified impairment of sodium and potassium concentrations in serum. After completing specialized examinations established diagnosis of porphyria. In this case, diagnosis was difficult because of overlapping symptoms of urinary tract infections and haematuria in the first attack of porphyria in life.