[76] Hereditary kidney stones: An experience of a nephrology department

Objective: To determine clinical and metabolic characteristics and progression of hereditary urinary lithiasis. Genetic factors must be considered in the aetiological diagnosis of urinary lithiasis. Methods: A retrospective study was conducted between 2008 and 2018, and 53 patients were included. Pa...

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Autores principales:	Hayet Kaaroud, Nutritionist Hanene Kharroubi, Fathi Ben Hamida
Formato:	article
Lenguaje:	EN
Publicado:	Taylor & Francis Group 2018
Materias:	Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/8ab3e7100b474d6cad34c0f1baae89a7
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spelling	oai:doaj.org-article:8ab3e7100b474d6cad34c0f1baae89a72021-12-02T10:15:12Z[76] Hereditary kidney stones: An experience of a nephrology department2090-598X10.1016/j.aju.2018.10.029https://doaj.org/article/8ab3e7100b474d6cad34c0f1baae89a72018-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2090598X18301232https://doaj.org/toc/2090-598XObjective: To determine clinical and metabolic characteristics and progression of hereditary urinary lithiasis. Genetic factors must be considered in the aetiological diagnosis of urinary lithiasis. Methods: A retrospective study was conducted between 2008 and 2018, and 53 patients were included. Patients were referred to our department for aetiological investigation in 36 cases, for chronic renal failure in eight cases, and from paediatric departments to be followed-up in adulthood in nine cases. Results: In all, 32 men and 21 women were enrolled in this study with a male/female sex ratio of 1.52. The mean (range) age at the time of diagnosis of the hereditary character of the urinary lithiasis was 29 years (4 days–63 years).The mean (range) delay between the onset of the lithiasis disease and the aetiological diagnosis was 10.5 (1–42) years. We noted 26 cases of cystinuria, 17 cases of primary hyperoxaluria type 1 with two mutations (I244T in 15 cases and 33–34 Insc in two cases), and 10 cases of renal tubulopathy. In all, 14 patients had chronic renal failure, of which five were in end-stage. Crystalluria was positive in 62% of the cases. The morpho-constitutional analysis of stones was conducted in 31 cases; oxalo-dependent lithiasis was identified in nine cases and cystine lithiasis in 22 cases. After a mean follow-up of 82 months for 43 patients, we noted normal renal function in 21 cases, chronic renal failure in 12 cases, and haemodialysis in nine cases, all with primary hyperoxaluria and transplantation in one case. Conclusion: The aetiological diagnosis of hereditary urinary lithiasis was made with considerable delay. Cystinuria was the most frequent aetiology and primary hyperoxaluria was the most serious affliction.Hayet KaaroudNutritionist Hanene KharroubiFathi Ben HamidaTaylor & Francis GrouparticleDiseases of the genitourinary system. UrologyRC870-923ENArab Journal of Urology, Vol 16, Iss , Pp S36- (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the genitourinary system. Urology RC870-923
spellingShingle	Diseases of the genitourinary system. Urology RC870-923 Hayet Kaaroud Nutritionist Hanene Kharroubi Fathi Ben Hamida [76] Hereditary kidney stones: An experience of a nephrology department
description	Objective: To determine clinical and metabolic characteristics and progression of hereditary urinary lithiasis. Genetic factors must be considered in the aetiological diagnosis of urinary lithiasis. Methods: A retrospective study was conducted between 2008 and 2018, and 53 patients were included. Patients were referred to our department for aetiological investigation in 36 cases, for chronic renal failure in eight cases, and from paediatric departments to be followed-up in adulthood in nine cases. Results: In all, 32 men and 21 women were enrolled in this study with a male/female sex ratio of 1.52. The mean (range) age at the time of diagnosis of the hereditary character of the urinary lithiasis was 29 years (4 days–63 years).The mean (range) delay between the onset of the lithiasis disease and the aetiological diagnosis was 10.5 (1–42) years. We noted 26 cases of cystinuria, 17 cases of primary hyperoxaluria type 1 with two mutations (I244T in 15 cases and 33–34 Insc in two cases), and 10 cases of renal tubulopathy. In all, 14 patients had chronic renal failure, of which five were in end-stage. Crystalluria was positive in 62% of the cases. The morpho-constitutional analysis of stones was conducted in 31 cases; oxalo-dependent lithiasis was identified in nine cases and cystine lithiasis in 22 cases. After a mean follow-up of 82 months for 43 patients, we noted normal renal function in 21 cases, chronic renal failure in 12 cases, and haemodialysis in nine cases, all with primary hyperoxaluria and transplantation in one case. Conclusion: The aetiological diagnosis of hereditary urinary lithiasis was made with considerable delay. Cystinuria was the most frequent aetiology and primary hyperoxaluria was the most serious affliction.
format	article
author	Hayet Kaaroud Nutritionist Hanene Kharroubi Fathi Ben Hamida
author_facet	Hayet Kaaroud Nutritionist Hanene Kharroubi Fathi Ben Hamida
author_sort	Hayet Kaaroud
title	[76] Hereditary kidney stones: An experience of a nephrology department
title_short	[76] Hereditary kidney stones: An experience of a nephrology department
title_full	[76] Hereditary kidney stones: An experience of a nephrology department
title_fullStr	[76] Hereditary kidney stones: An experience of a nephrology department
title_full_unstemmed	[76] Hereditary kidney stones: An experience of a nephrology department
title_sort	[76] hereditary kidney stones: an experience of a nephrology department
publisher	Taylor & Francis Group
publishDate	2018
url	https://doaj.org/article/8ab3e7100b474d6cad34c0f1baae89a7
work_keys_str_mv	AT hayetkaaroud 76hereditarykidneystonesanexperienceofanephrologydepartment AT nutritionisthanenekharroubi 76hereditarykidneystonesanexperienceofanephrologydepartment AT fathibenhamida 76hereditarykidneystonesanexperienceofanephrologydepartment
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[76] Hereditary kidney stones: An experience of a nephrology department

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