FANKONI NEFRONOFTYZ (G. Fanconi, Swiss pediatrician, 1892 — 1979; Greek nephros kidney + phthisis tuberculosis; synonym: nefronoftiz juvenile family) — the hereditary slowly progressing disease which is characterized by damage of kidneys leading to development of a chronic renal failure.
The disease is described in 1951 by Fankoni and sotr. It is inherited on autosomal recessively type (see Inheritance). The leading role in a pathogeny is played by a hyalinosis of renal balls, cystous expansions of tubules, a thickening of a canalicular basal membrane that at early children's age leads to loss of ability of kidneys to concentrate urine (hyposthenuria) and to disturbance of their homeostatic function. Due to the accompanying disturbance of synthesis of erythropoetin (see) normokhromny anemia develops (see).
The pathoanatomical picture is characterized by thinning of cortical substance of kidneys, its atrophy and formation of medullary cysts.
The disease begins in the first weeks of life, but owing to a stertost a wedge, pictures a nek-swarm time is not distinguished. At the child physical development is slowed down, pallor of skin, anemia is noted. By the end of the first year of life the polyuria (see) and a polydipsia develops (see). The stomach increases, signs of an osteodystrophy appear (see
the Osteopathy nephrogenic), lag in growth becomes more and more expressed. Hypostases and arterial hypertension are absent. The disease steadily progresses and leads to a renal failure (see).
The IMAGINATION 189
Diagnosis is established on the basis by a wedge, pictures, data gistol. researches of the renal fabric received at a biopsy and results of a laboratory research. At a research of an uric deposit of deviations does not come to light, however from the very beginning of a disease low relative density of urine is noted. Gradual depression of function of kidneys leads to development of a metabolic acidosis (see), hyperazotemias, hypopotassemias, to decrease in content of calcium in blood.
The symptomatic treatment, is directed to correction of metabolic shifts (fight against acidosis, administration of drugs of potassium, packed red cells transfusion); carry out a hemodialysis (see). At inefficiency of conservative treatment make renal transplantation (see).
P rognoz adverse owing to development hron. renal failure.
Prevention is performed in the course of medicogenetic consultation (see. Medicogenetic consultation).
See also Hereditary diseases.
Bibliography: Ignatova M. S. and
Veltishchev Yu. E. Children's nephrology, page 220, L., 1982; Fanconi G. u. a. Die familiare juvenile Nephronophthise (die idiopathische parenchymatose Schru-mpfniere), Helv. paediat. Acta, Bd 6, S. 1, 1951. BB. E. Veltishchev.