A CASE FROM PRACTICE - NEFRONOFTIZ OF FANKONI

Аннотация

Nefronoftiz of Fankoni belongs to family diseases with an autosomal recessive mode of inheritance and is characterized by polyuria and polydipsia, the gradual development of CRF. There may be infrequent cases of sporadic disease. It is believed that the primary defect is in the enzyme systems of the distal tubules, leading to degeneration of their epithelium and fibrosis of the interstitial tissue. The article presents a case from the practice of a girl of 7 years. Similar manifestations of the disease were noted in the girl’s brothers, which were fatal. This case is evidence that the cause of a number of kidney diseases are closely related marriages of parents. Prevention of the disease must be carried out in the process of medical and genetic counseling, especially in the case of repeated episodes of mortality from several patients in the CRF.