The syndrome is characterized by opacity of the cornea, anemia, proteinuria( the appearance of protein in the urine), a significant decrease in the level of cholesterol esters and lecithin in ...

Currently, hereditary and congenital kidney diseases are one of the most important causes of disability of children and adults. More than 70% of all cases of chronic renal failure are due to prec...

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 cho...

Biochemical Cystinuria is the most common anomaly in the metabolism of the amino acid cystine, which is characterized by its appearance in the urine. Population studies have shown that its freq...

1. Primary hereditary forms: nephrocalcinosis. 2. Secondary forms: 1) immune pathology of the tubules; 2) Transplanted kidney; 3) interstitial nephritis with papillitis; 4) me...

The prognosis of kidney disease is primarily related to the development of a deficiency in the functional capacity of the kidneys. That is why special studies are conducted to study the risk fact...

A hereditary impairment of porphyrin synthesis is more common in men, since inheritance is linked to the X chromosome, and in men this chromosome is present in the singular. Less often, the di...

Mucopolysaccharidosis on the nature of the emerging changes in the bone system are related to diseases in which the epiphyses of the bones are affected. It is with this circumstance that diffi...

Unlike diabetes, renal glucosuria( the appearance of glucose in the urine) is characterized by a normal sugar content in the blood and occurs with an isolated violation of the reverse absorpti...

Kidneys are the main organs that ensure the removal of excess nonvolatile acids from the body. This is their vital homeostatic function, aimed at maintaining the consistency of the pH of blood...

Pseudoahondroplasia is a disease that occurs with the defeat of the epiphyses of bones, accompanied by pronounced dwarfism with shortened limbs. This disease was first described in 1959. Ps...

In 1926, Willebrand first observed on the Åland Islands a family whose members suffered from a peculiar haemorrhagic diathesis similar to hemophilia. This diathesis is transmitted according to th...

Vitamin D-resistant rickets( phosphate-diabetes) .The leading signs are ricket-like changes in the skeleton, mainly the lower extremities. Most often, the first signs of vitamin D-resistant ric...

The word "diastrophic" is of Greek origin and in translation means "curve twisted".The term "diastrophism" was borrowed from geology. It denotes the process of curvature of the earth's crust, ...

hemoglobinopathy is the most common anomaly of hemoglobin structure. In the case of homozygous carriage of the mutant gene of this disease, it is said about sickle cell anemia, and in case of het...

The disease is transmitted by an autosomal type of inheritance, which causes them to suffer from both sexes. There are latent( latent), small and severe forms of the disease. In the first ...

The disease is transmitted by an autosomal recessive type of inheritance. The slowest healing of the umbilical wound and bleeding from it during the first 3 weeks of life is the most frequ...

Diabetes mellitus type II is, by its mechanism of development, a group of metabolic disorders that can occur under the influence of a wide variety of causes. This disease is characterized by a...