Hereditary urolithiasis at a young age on the example of a clinical case

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Abstract

To study the clinical features and course of urolithiasis in a young female patient, to suggest the cause of the simultaneous sudden formation of kidney stones in the patient and her mother within a year.

Main provisions: urolithiasis (KSD) is one of the most common diseases of the urinary tract. The relevance of effective treatment of this problem arises from the steady increase in the number of patients around the world, especially in Russia. According to many researchers, this trend is due to the increase in life expectancy, changes in lifestyle and nutrition, as well as changes in the composition of water and climate conditions. Approximately two thirds of patients, develop the disease at the age from 30 to 60. Characteristic features of urolithiasis are repeated recurrence and a high incidence of complex forms, which complicates the treatment of such patients significantly.

Diagnostic algorithm and treatment of urolithiasis are demonstrated in this article on the example of a medical history of a young patient with rapidly progressing urolithiasis.

A similar disease with the same symptoms of urolithiasis was revealed in the patient’s parent a week later, which suggests a hereditary predisposition factor or manifestation of urolithiasis being dependent on the hard drinking water.

The simultaneous sudden formation of kidney stones within a year in a patient at a young age and her mother emphasizes the hereditary nature of the disease. Probably, the peculiarities of national cuisine or the individual preferences of patients played a significant role in the development of the pathology. The composition of drinking water is extremely important. The patient is from the Republic of Bashkortostan, where water hardness is 7.8–8.0, which does not meet the standard.

About the authors

S. N. Styazhkina

Izhevsk State Medical Academy

Email: sstazkina064@gmail.com
ORCID iD: 0000-0001-5787-8269

MD, PhD, Professor of the Department of Faculty Surgery

Russian Federation, Izhevsk

P. G. Sannikov

Izhevsk State Medical Academy; First Republican Clinical Hospital

Email: pgsannikov@mail.ru
ORCID iD: 0009-0007-8435-1121

Candidate of Medical Sciences, Associate Professor of the Department of Faculty Surgery

Russian Federation, Izhevsk; Izhevsk

D. N. Kuklin

First Republican Clinical Hospital

Email: sstazkina064@gmail.com
ORCID iD: 0000-0003-1583-7922

urologist

Russian Federation, Izhevsk

S. G. Gushchin

Izhevsk State Medical Academy

Email: Doctorgushin83@yandex.ru
ORCID iD: 0009-0000-4763-7197

postgraduate student of the Department of Faculty Surgery, Urologist, Andrologist

Russian Federation, Izhevsk

R. Z. Galieva

Izhevsk State Medical Academy

Email: galiyeva.2002@bk.ru
ORCID iD: 0009-0003-6718-9645

4th year student of the Pediatric Faculty

Russian Federation, Izhevsk

G. R. Khaidarova

Izhevsk State Medical Academy

Author for correspondence.
Email: Gulnaz_khaydarova_00@mail.ru
ORCID iD: 0009-0009-4988-8833

4th year student of the Pediatric Faculty

Russian Federation, Izhevsk

References

  1. Nojaba L, Guzman N. Nephrolithiasis. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing 2023; Jan. PMID: 32644653
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  3. Каприн А.Д., Аполихин О.И., Сивков А.В., Анохин Н.В., Гаджиев Н.К., Малхасян В.А., Акопян Г.Н., Просянников М.Ю. Заболеваемость мочекаменной болезнью в Российской Федерации с 2005 по 2020 г. Экспериментальная и клиническая урология 2022; 15 (2): 10–17 / Kaprin A.D., Apolikhin O.I., Sivkov A.V., Anokhin N.V., Gadzhiev N.K., Malkhasyan V.A., Akopyan G.N., Prosyannikov M.Yu. The incidence of urolithiasis in the Russian Federation from 2005 to 2020. Experimental and Clinical Urology 2022; 15 (2): 10–17 (in Russian).
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  5. Бережной А.Г., Сачивко К.В., Дунаевская С.С. Современные принципы консервативного лечения мочекаменной болезни. Современные проблемы науки и образования 2020; 6 / Berezhnoy A.G., Sachivko K.V., Dunaevskaya S.S. Modern principles of conservative treatment of urolithiasis. Modern problems of science and education 2020; 6 (in Russian).
  6. Стяжкина С.Н., Черненкова М.Л., Гюльахмедова Э.М., Габбасова Г.Р., Медведь М.С., Назаров В.В. Актуальные проблемы осложнений мочекаменной болезни. Успехи современного естествознания 2015; 4: 68–69 / Styazhkina S.N., Chernenkova M.L., Gyul'akhmedova E.M., Gabbasova G.R., Medved' M.S., Nazarov V.V. Current problems of complications of urolithiasis. Advances in modern natural science 2015; 4: 68–69 (in Russian).

Supplementary files

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2. Fig. 1. Patient G. Kidney ultrasound dated September 20, 2023: the presented images show microliths in the upper and lower cups of the right and left kidneys

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3. Fig. 2. Patient G. Ultrasound of the bladder dated September 20, 2023: hyperechoic formation in the lower third of the ureter on the left

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