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[Inherited kidney stones: A nephrology center experience].
Prog Urol 2019PU

Abstract

INTRODUCTION

Genetic factors must be considered in etiological diagnosis of urinary lithiasis. The aim of this study was to determine clinical, metabolic characteristics and the progression of hereditary urinary lithiasis in our patients.

METHODS

A retrospective study was conducted between 2008 and 2018 and 60 patients were included. Patients were referred to our department from pediatrics departments to be followed-up in adulthood in 9 cases, for etiological investigation in 42 cases and for chronic renal failure in 9 cases.

RESULTS

Thirty-five men and twenty-five women were enrolled in this study with a M/F sex ratio equal to 1.4. The mean age at the time of diagnosis of the hereditary character of the urinary lithiasis was 28.6years (3months-63years). The average delay between the onset of the lithiasis disease and the etiological diagnosis was 8years (0-42years). We noted 31 cases of cystinuria, 18 cases of primary hyperoxaluria type 1 with two mutations (I244T in 14 cases, 33-34 Insc in 23 cases) and 11 cases of renal tubulopathy. Fourteen patients were affected with chronic renal failure, of which five were in the end-stage renal disease. Crystalluria was positive in 62% of cases. The morpho-constitutional analysis of stones was performed in 37 cases and it contributed to the diagnosis in 29 cases. After an average follow-up of 16years, we noted normal renal function in 42 cases, chronic renal failure in 7 cases, hemodialysis in 10 cases all with primary hyperoxaluria and transplantation in 1 case.

CONCLUSION

The etiological diagnosis of hereditary urinary lithiasis in our study was made with considerable delay. Cystinuria was the most frequent etiology and primary hyperoxaluria was the most serious affection.

LEVEL OF EVIDENCE

4.

Authors+Show Affiliations

Service de médecine A, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie. Electronic address: jery.hk@planet.tn.Service de médecine A, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de médecine A, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de médecine A, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de néphrologie, hôpital La Marsa, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de néphrologie, hôpital La Marsa, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de biochimie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service d'urologie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service d'urologie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service d'urologie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service d'urologie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de génétique, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de biochimie, hôpital Sahloul, Sousse, Tunisie.Service de pédiatrie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de pédiatrie, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Laboratoire de pathologie rénale LR00SP01, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.Service de médecine A, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.

Pub Type(s)

English Abstract
Journal Article

Language

fre

PubMed ID

31537493

Citation

Kaaroud, H, et al. "[Inherited Kidney Stones: a Nephrology Center Experience]." Progres En Urologie : Journal De l'Association Francaise D'urologie Et De La Societe Francaise D'urologie, 2019.
Kaaroud H, Harzallah A, Sayhi M, et al. [Inherited kidney stones: A nephrology center experience]. Prog Urol. 2019.
Kaaroud, H., Harzallah, A., Sayhi, M., Bacha, M., Khadhar, M., Goucha, R., ... Ben Abdallah, T. (2019). [Inherited kidney stones: A nephrology center experience]. Progres En Urologie : Journal De l'Association Francaise D'urologie Et De La Societe Francaise D'urologie, doi:10.1016/j.purol.2019.08.262.
Kaaroud H, et al. [Inherited Kidney Stones: a Nephrology Center Experience]. Prog Urol. 2019 Sep 16; PubMed PMID: 31537493.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Inherited kidney stones: A nephrology center experience]. AU - Kaaroud,H, AU - Harzallah,A, AU - Sayhi,M, AU - Bacha,M, AU - Khadhar,M, AU - Goucha,R, AU - Bouzid,K, AU - Ayed,H, AU - Bouzouita,A, AU - Cherif,M, AU - Chebil,M, AU - Mrad,R, AU - Omezzine,A, AU - Jallouli,M, AU - Gargah,T, AU - Ben Hamida,F, AU - Ben Abdallah,T, Y1 - 2019/09/16/ PY - 2019/04/11/received PY - 2019/07/06/revised PY - 2019/08/06/accepted PY - 2019/9/21/entrez KW - Cystinuria KW - Cystinurie KW - Hyperoxaliuria KW - Hyperoxaliurie KW - Inherited disease KW - Kidney stones KW - Lithiase urinaire KW - Maladie héréditaire KW - Renal tubulopathy KW - Tubulopathie rénale JF - Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie JO - Prog. Urol. N2 - INTRODUCTION: Genetic factors must be considered in etiological diagnosis of urinary lithiasis. The aim of this study was to determine clinical, metabolic characteristics and the progression of hereditary urinary lithiasis in our patients. METHODS: A retrospective study was conducted between 2008 and 2018 and 60 patients were included. Patients were referred to our department from pediatrics departments to be followed-up in adulthood in 9 cases, for etiological investigation in 42 cases and for chronic renal failure in 9 cases. RESULTS: Thirty-five men and twenty-five women were enrolled in this study with a M/F sex ratio equal to 1.4. The mean age at the time of diagnosis of the hereditary character of the urinary lithiasis was 28.6years (3months-63years). The average delay between the onset of the lithiasis disease and the etiological diagnosis was 8years (0-42years). We noted 31 cases of cystinuria, 18 cases of primary hyperoxaluria type 1 with two mutations (I244T in 14 cases, 33-34 Insc in 23 cases) and 11 cases of renal tubulopathy. Fourteen patients were affected with chronic renal failure, of which five were in the end-stage renal disease. Crystalluria was positive in 62% of cases. The morpho-constitutional analysis of stones was performed in 37 cases and it contributed to the diagnosis in 29 cases. After an average follow-up of 16years, we noted normal renal function in 42 cases, chronic renal failure in 7 cases, hemodialysis in 10 cases all with primary hyperoxaluria and transplantation in 1 case. CONCLUSION: The etiological diagnosis of hereditary urinary lithiasis in our study was made with considerable delay. Cystinuria was the most frequent etiology and primary hyperoxaluria was the most serious affection. LEVEL OF EVIDENCE: 4. SN - 1166-7087 UR - https://www.unboundmedicine.com/medline/citation/31537493/[Inherited_kidney_stones:_A_nephrology_center_experience] L2 - https://linkinghub.elsevier.com/retrieve/pii/S1166-7087(19)30450-6 DB - PRIME DP - Unbound Medicine ER -