LOWE SYNDROME (Ch. U. Lowe, sovr, amer. pediatrician; synonym okulotserebrorenalny syndrome) — the hereditary syndrome which is characterized by the damage of eyes, mental retardation increased by allocation with urine of organic acids. Meets seldom, only boys are ill; mothers transmit a disease, but are not ill.
Hp in detail described Lowe in 1952. The pathogeny is completely not found out. The combined damage of a brain, eyes and kidneys is considered as display of inborn disbolism, in particular in a tricarbonic acid cycle, with accumulation in an organism pyroracemic to - you and loss organic to - t with urine owing to insufficiency of canalicular system of kidneys; disturbances in phosphorus-calcium and amino-acid exchange matter also.
At pathomorphologic researches find a hypoplasia of frontal lobes of a brain with moderate hydrocephaly and insignificant pericellular hypostasis. In a liver — small stagnation of blood, fatty dystrophy of hepatic cells. In kidneys — an incomplete differentiation of cortical substance with a large number of renal balls; in an interstitium the cells reminding the cysts filled with oxyphilic substances meet; proximal, distal departments of nephron and a nephronic loop (Henle's loop) morphologically do not differ from each other.
Clinically lag in intellectual development, hypotonia of muscles, hypo - and an areflexia, bilateral comes to light cataract (see) with glaucoma (see), nystagmus (see), photophobia (see); from bone system there can be rakhitopodobny manifestations; irregular rises in temperature are observed. There are symptoms of renal canalicular acidosis (see. Laytvuda — Albright a syndrome ). In urine the albuminuria is found (see. Proteinuria ), a hyper aminoaciduria (see. Aminoatsiduriya , Glycinuria ), a hypercalcuria (see. Nephrocalcinosis ), sometimes glycosuria (see); in blood — a disproteinemia, a hypoalbuminemia, hyperphosphatemias, increase in residual nitrogen.
The diagnosis is made on the basis a wedge, displays of a disease and data a lab. blood analysis and urine. The differential diagnosis is carried out with other rakhitopodobny diseases (see. Nephrogenic osteopathy ).
Treatment of a basic disease is not developed. Symptomatic purpose of vitamin D, citrate mixes reduces rakhitopodobny manifestations from bones.
Forecast adverse. Accession of a staphylococcal infection with development of a septicopyemia is possible. Patients perish aged up to 10 years from accession of an infection or a renal failure.
Bibliography: Diseases of kidneys, under the editorship of G. Mazhdrakov and N. Popov, lane with bolg., page 374, Sofia, 1965; With at v i n K. Century, Weide mann J. and. In a t h e n J. Lowes syndrome, Acta paediat. (Uppsala), v. 62, p. 309, 1973; Lowe C. U., TerreyM. MacLachlan of E.A. Organic-aciduria, decreased renal ammonia production, hyd-rophthalmos and mental retardation, Amer. J. Dis. Child., v. 13, p. 164, 1952.
V. P. Lebedev.