HARTNUPA the DISEASE [by name sick E. Hartnup] — the hereditary anomaly of exchange of tryptophane which is shown damage of skin and a nervous system.
It is for the first time described in 1956. D. N. Baron and sotr.
X. it is inherited on autosomal recessively type. Parents of considerable number of patients were blood relatives. The disease develops owing to disturbance of absorption of tryptophane in intestines and a reabsorption of a number of amino acids in kidneys. Decomposition of tryptophane in intestines under the influence of bacteria leads to formation of indole products, to-rye come to blood and have toxic effect on c. N of page, skin and kidneys. A part in a pathogeny of a disease is played by also insufficient synthesis nicotinic to - you in an organism connected with deficit of tryptophane.
It is more often shown at children's age. The wedge, picture is characterized by a dermahemia, a peeling, bulging on the sites available to a sunlight — i.e. a photodermatosis (see). At a considerable part of patients the cerebellar ataxy (see) having reversible character, a tremor of fingers of hands, disorders of handwriting is observed. At nevrol. inspection a nystagmus, disturbances of convergence, symptoms of defeat of pyramidal system, a choreiform hyperkinesia come to light (see). At a part of patients mental disorders — attacks of anger, a depression, fear, hallucinations are noted.
In some cases absorption of products of decomposition of tryptophane does not happen since from indole connections nek-ry microorganisms of intestines synthesize harmless paint — blue indigotin, then the only display of a disease is blue coloring of urine, and the disease is called «a disease of blue diapers».
Diagnosis of X. put on the basis a wedge, pictures and data of a biochemical research. In urine of patients total absence of tryptophane is noted, significant amounts of a glutamine, asparagine, a histidine, serine, threonine are found. Excretion of proline, methionine, arginine is lowered. Giperaminoatsidu-riya (see Aminoatsiduriya) is explained by damage of renal tubules by the indole products arriving from intestines. Removal of an indican with urine several times exceeds norm. In urine find a significant amount indolyl - milk and indolyacetic to - t. Introduction of antibiotics of a broad spectrum of activity leads to complete cessation of excretion of indole products with urine that can be used as diagnostic test. The differential diagnosis is carried out with a pellagra (see), malignant new growths of intestines, at to-rykh disturbance of exchange of tryptophane, and also disorder of exchange of tryptophane takes place. The last can appear at prolonged treatment by an isoniazid or Ftivazidum, to-rye are antagonists of a pyridoxine — the most important cofactor of the enzymes participating in metabolism of tryptophane.
At treatment recommend fasting fruit and sugar days. Skin should be protected from influence of sunshine. Appoint nicotinic to - that (or its amide), vitamins of group B and especially rat anti-acrodynia factor (pyridoxine). At heavy disease antibiotics (levomycetinum, Kanamycinum) are shown.
The forecast is favorable, with age clinical manifestations considerably weaken or disappear completely.
Prevention of the birth of the second sick child is performed by medicogenetic consultations.
Bibliography: Badalyan L. O., Thabo lean V. A. and Veltishev Yu. E. Hereditary diseases at children, page 65, M., 1971; Baron D. N. and. lake of Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aci-duria, and other bizarre biochemical features, Lancet, v. 271, p. 421, 1956.
BB. E. Veltishchev.