T.V. MIKHAILOVA¹, S.V. MALTSEV¹, T.V. PUDOVIK²

¹Kazan State Medical Academy – Branch Campus of RMACPE MH Russia, Kazan

²Children’s Municipal Hospital № 2, Kazan

Contact details:

Mikhailova T.V. – Ph. D. (medicine), Associate Professor of the Department of Pediatrics and Neonatology

Address: 36 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7-917-860-04-47, e-mail: tatiana.mih@mail.ru

The work purpose was to consider, by literature data, the diseases and conditions in which nephrocalcinosis develops, taking into account the genetic aspects of this pathology, as well as to present clinical cases of hereditary diseases and syndromes.

Material and methods. Clinical and molecular genetic data for each disease were compiled using the electronic database OMIM – on-line mendelian inheritance of man. The article presents clinical cases of distal renal tubular acidosis in siblings, as well as nephrocalcinosis in a boy with Williams syndrome. The dynamics reflects the clinical picture, the functional state of kidneys, the calcium-phosphorus and electrolyte metabolism, the degree of nephrocalcinosis according to renal ultrasound.

Results. It is shown that, depending on the cause of nephrocalcinosis, it may be a manifestation of various states and hereditary syndromes, with pathogenetic mechanisms of its development differing accordingly. However, regardless of its cause, the pathological calcification of parenchyma leads to a progressive decrease in renal function. Depending on the cause of nephrocalcinosis, tactics and results of treatment are shown in dynamics.

Conclusion. Timely diagnosis of the underlying disease or condition, accompanied by the development of nephrocalcinosis, makes it possible to carry out therapeutic measures to slow the progression of the pathological process in kidneys and renal failure.

Key words: nephrocalcinosis, hypercalciuria, distal renal tubular acidosis, Williams syndrome, renal dysfunction.

(For citation: Mikhailova T.V., Maltsev S.V., Pudovik T.V. Nephrocalcinosis with hereditary diseases and syndromes in children. Practical Medicine. 2019, Vol. 17, № 5, P. 31-37)

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