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Hartnup's disease: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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Hartup's disease is considered autosomal recessive. It was described in 1956 by DN Baron et al. The disease is characterized by a pellagroid rash, neuropsychiatric changes and aminoaciduria.
Causes and pathogenesis of Hartup's disease. The disease occurs due to poor absorption of the amino acid tryptophone or weakened reabsorption of this substance in the kidneys. As a result, amino acid metabolism is disrupted, aminoaciduria is observed. decreased synthesis of nicotinic acid. According to some scientists, this disease disrupts the absorption of tryptophone from the gastrointestinal and renal tract (reabsorption). Gene locus 2 pter-q 32.3 has been identified, and the disease is considered hereditary.
Symptoms of Hartup's disease. Skin changes begin in early childhood. Frequently recurring dermatitis appears in areas exposed to sunlight. Erythematous-squamous rash, blisters and vesicles appear on the skin. Subsequently, inflammatory signs in the skin decrease, and secondary hyperpigmentation remains. Vascular poikiloderma and mucous membrane lesions, nail and hair dystrophy are sometimes observed.
Skin rashes are combined with neurological symptoms. Cerebellar ataxia, dementia, nystagmus, ptosis, diplopia and other neuropsychiatric changes can be detected.
Histopathology: Non-specific signs of chronic inflammation are observed in the epidermis and dermis.
Differential diagnosis. The disease should be distinguished from porphyria and pellagra. The indole content in the urine of patients increases.
Treatment of Hartup's disease. Long-term use of nicotinic acid (100-200 mg per day) and sunscreens are recommended.
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