Hereditary tubulopathies accompanying polyuia

Abstract

Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and pseudohyperaldosteronism. Types of renal glucosuria are described, namely: type A, type B and the most severe type 0. Type A is characterized by a low filtration threshold and low glucose reabsorption. The type of inheritance is autosomal recessive. Type B, autosomal dominant, is characterized by uneven activity of glucose transport, in which its reabsorption is reduced only in some nephrons. That is, normal reabsorption of glucose is maintained, but the filtration threshold of the latter is reduced. Type 0 with a severe course is characterized by complete inability of epithelial cells of the proximal tubules to reabsorb glucose. Nephrogenic diabetes insipidus is a rare inherited disease caused by impaired response of the renal tubules to antidiuretic hormone (ADH). Depending on the degree of inability to concentrate urine, there are complete and partial forms. It is divided into nephrogenic diabetes insipidus type I (X-linked recessive); nephrogenic diabetes insipidus type II (autosomal recessive and autosomal dominant) and nephrogenic diabetes insipidus syndrome with dementia and intracerebral calcifications (type of inheritance remains unknown). Children with autosomal recessive type of inheritance suffer from the more severe disease course. Pseudohypoaldosteronism is characterized by a special condition of the renal tubules which is due to insufficient sensitivity of the tubular epithelium to aldosterone, which in turn leads to hyperaldosteronism, the development of hyponatremia, metabolic acidosis with hyperkalemia, polydipsia and polyuria, decreased sodium reabsorption and retardation of the child's physical development. The classification includes three syndromes of pseudohypoaldosteronism, namely: type I (PHA1), which is divided into PHA1A (autosomal dominant, renal), PHA1B (autosomal recessive, systemic); type II (PHA2; Gordon’s syndrome), type III (secondary), which develops as a result of renal pathology.

Keywords

• renal glucosuria; nephrogenic diabetes insipidus; pseudohypoaldosteronism; children; genes.