[Inherited kidney stones: A nephrology center experience]. / Lithiase urinaire héréditaire : expérience d'un service de néphrologie.

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.

Mortality of diabetic on chronic dialysis in Tunisia.

Survival rates of diabetic patients on maintenance hemodialysis (HD) are reported to be poorer in Tunisia than in developed countries. This study aims to specify the epidemio-logical, clinical, and biological characteristics of diabetic disease, chronic kidney disease (CKD), and comorbidities at the initiation of HD and investigate factors associated with mortality during the dialysis period. We retrospectively analyzed the outcome of diabetic patients who were initiated on HD from 2007 to 2012 at the Rabta Hospital of Tunis. During the follow-up period, all morbid events and deaths were recorded. Univariate analysis and multivariate analysis were performed to identify risk factors associated with mortality in our population. The study population included 142 patients. The mean age was 58.7 ± 11.9 years. The sex ratio male/female was 1.4. One hundred and twenty-seven patients were type 2 diabetics (89.4%). Diabetic nephropathy was the main initial nephropathy (87.3%). CKD was diagnosed at Stages 4 or 5 in 95.1% of cases. HD was started in emergency conditions in 68.6% of cases. The one-year and the five-year survival rates were 42% and 17%, respectively. At initiation of HD, low socioeconomic status (P = 0.001), advanced age (P = 0.008), low body mass index (P = 0.04), history of stroke (P = 0.04), peripheral neuropathy (P = 0.02), initial vascular access (P = 0.03), secondary hyperpara-thyroidism (P = 0.03), nephrotic-range proteinuria (P = 0.01), and glycated hemoglobin ≤7% (P = 0.03) were associated with higher mortality rate. During dialysis period, cardiovascular events (P = 0.02), infectious complications (P = 0.04), and secondary hyperparathyroidism (P = 0.04) were significantly more noticeable among deceased patients. Due to poor survival rates of diabetic patients on HD, prevention, early detection, and management of diabetic CKD patients should be the way to go forward.

[Cervical teratoma in a child]. / Tératome cervical chez l'enfant.

Teratomas are unusual tumors derived from all 3 germs cells layers: endoderm, mesoderm, and ectoderm, with varying proportions. The cervical area is exceptionally affected. We report 4 cases of cervical teratoma. The clinically and radiologically suggested diagnosis was confirmed by histology. We describe herein the main clinical, radiological, and histological aspects and outcomes of this disease. Despite its most often benign histologic nature, cervical teratoma may threaten newborn infants' life due to airway compression. A multidisciplinary approach to the disease starting at delivery is required to improve the prognosis.