Hartnup's disease: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Khartup's disease is considered autosomal recessive. It was described in 1956 by DN Baron et al. The disease is characterized by the precipitation of the pellagrogenic son, neuropsychic changes and aminoaciduria.
Causes and pathogenesis of Khartoup's disease. The disease occurs due to poor absorption of the amino acid tryptophone or a weakening of the reabsorption of this substance in the kidneys. As a result, amino acid metabolism is disrupted, aminoaciduria is observed. Reduction in the synthesis of nicotinic acid. According to some scientists, this disease disrupts the absorption of tryptophone from the gastrointestinal and renal (reabsorption) pathways. The gene locus 2 pter-q 32.3 is isolated, and the disease is considered hereditary.
Symptoms of Khartoup's disease. Changes on the skin begin with early childhood. In areas affected by sunlight, there is often a recurrent dermatitis. On the skin there are erythematous-squamous rashes, blisters and vesicles. In the subsequent inflammatory signs in the skin decrease, and there is secondary hyperpigmentation. Sometimes vascular poikilodermia and mucous membrane damage, nail and hair dystrophy are observed.
Rashes on the skin are combined with neurological symptoms. At the same time, it is possible to detect ataxia of the cerebellum, dementia, nystagmus, ptosis, diplopia and other neuropsychic changes.
Histopathology. In the epidermis and dermis, there are nonspecific signs of chronic inflammation.
Differential diagnosis. The disease should be distinguished from porphyria and pellagra. In the urine of patients, the content of indole increases.
Treatment of Khartup's disease. Recommended long-term use of nicotinic acid (100-200 mg per day), photoprotective.
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