Glomerular mesangiolipidosis( Alajilla syndrome)

Syndrome Alazhilla was first described in 1975. This disease is arterio-hepatic dysplasia( underdevelopment or absence of intrahepatic bile ducts), being one of the most frequent causes of cholestasis( absence of outflow of bile) in children. Up to 1987, about 80 observations of persons with this disease are known. The type of inheritance of the Alazhily syndrome is presumably autosomal recessive. Morphological basis of the disease is underdevelopment( or absence) of intrahepatic bile ducts, combined with pathological changes and kidney lipidosis.

Characteristic features of this syndrome:

1) facial dysmorphism: an outstanding part of the skull, small chin, deep-set eye sockets, saddle nose;

2) abnormalities of vertebral bodies that resemble a butterfly;

3) hypogonadism( underdevelopment of the genital organs);

4) delay in physical development;

5) high voice, less delayed mental development.

Syndrome is often combined with stenosis( narrowing of the lumen) of the pulmonary artery. Renal defects include immature glomeruli, cystic changes, arterial hypertension with underdevelopment of the renal arteries, hyperazotemia( large amounts of nitrogenous substances in the blood), tubulointerstitial nephritis.

When examining biopsies( pieces of tissue taken during biopsy) of the kidney tissue, glomerular cells, "foamy" cells, are revealed in size. In the blood the content of bilirubin, cholesterol, lipids is increased. The appearance of lipoprotein X, characteristic of cholestasis, was noted. In the urine is constantly present protein, which is initially explained as a manifestation of glomerulonephritis.

Many observations of Alazhill's syndrome have been considered as hepatorenal( hepatic-renal) syndrome, as it is characterized by signs of cholestasis( a violation of bile flow), which can appear already in the period of newborns, increase in liver size, whereas kidney damage initially recedes into the background. The course of the disease is prolonged, chronic renal failure gradually develops. At the heart of the disease is a violation of lipid( fat) metabolism. Unlike the typical forms of acquired hepatorenal syndrome, Alazhill's syndrome does not show any impairment of liver function.

Treatment consists in the application of fat-soluble vitamins A, D, E, cholestyramine, phenobarbital.