Background Nephrocalcinosis is rare in children. Its etiologies are multiple. The aim of this study was to analyze the etiology of nephrocalcinosis in Tunisian children. Methods This retrospective study was conducted in the department of pediatrics in Charles Nicolle Hospital during a period of 10 years (2001-2010). Results There were 40 children. The mean age was 3.5 years. The most common signs and symptoms at presentation were growth retardation (42.5%) and hematuria (53.8%). At presentation, renal failure was detected in 70% of patients. The diagnosis of nephrocalcinosis was performed by ultrasonography. The etiology of nephrocalcinosis included primary hyperoxaluria type 1 (65%) and distal renal tubular acidosis (20%). A progression to renal insufficiency was observed in 18 cases. Conclusion Primary oxaluria is the principal cause of nephrocalcinosis; early diagnosis and treatment are mandatory as they help limiting renal function deterioration.
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Introduction: There are three types of primary hyperoxaluria, with type 1 considered the most severe.
Aim: To analyze the clinical, genetic, and evolutionary characteristics of type 1 primary hyperoxaluria with pediatric onset.
Methods: This was a retrospective, descriptive study that included Tunisian children under the age of 18 at the time of diagnosis over a period of 25 years (January 1, 1996, to December 31, 2022).
Nephrol Ther
November 2022
Service de pédiatrie, hôpital Charles-Nicolle de Tunis, Tunis, Tunisie; Faculté de médecine de Tunis, université Tunis-El-Manar, Tunis, Tunisie.
Objective: To describe the clinical, biochemical and evolutive profile of monogenic urinary lithiasis in Tunisian children followed up in a reference service, during a 25 years period.
Methods: This was a single-center retrospective observational study of children with urolithiasis, conducted in the pediatric nephrology department in Charles Nicolle Hospital, Tunis, Tunisia over 25 years (January 1st, 1996 to December 31, 2020). Children≤18 of age with urolithiasis with or without nephrocalcinosis related to a monogenic disease were included in our study.
BMC Nephrol
June 2017
Biochemistry Department, LR12 SP11, Sahloul University Hospital, 4054, Sousse, Tunisia.
Background: Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients.
Methods: Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1.
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