Search

Abstract Background Proteus syndrome (PS) is a complex and uncommon disorder with as its main feature a patchy or mosaic postnatal overgrowth. A high clinical and radiological variability characterizes it. Case presentation We report the case of a 2-year-old boy presenting with lipomas and diagnosed as PS in front of general criteria (sporadic occurrence, progressive course, and mosaic distribution of lesions) and specific criteria (linear epidermal nevus in the chest and asymmetric and overgrowth in the upper limbs) of Biesecker. The course of the disease was marked by a huge overgrowth of arms despite several surgeries. By the age of 10 years, a painful swelling of the right forearm revealed a venous thrombosis on a venous malformation. Conclusions This case report highlights the variability of clinical findings in PS. It also emphasizes the contribution of routine imaging tools for the diagnosis and the follow-up of this rare disease.

Author(s): Manel Jellouli [sup.1] [sup.2] [sup.3] , Abir Boussetta [sup.1] [sup.2] [sup.3] , Meriem Hajji [sup.2] [sup.4] , Yosra Falfoul [sup.2] [sup.5] , Linda Hadj Kacem [sup.2] [sup.6] , Ezzeddine [...]

Introduction: Nephronophthisis (NPHP) is a tubulointerstitial kidney disorder with an autosomal recessive inheritance pattern. Its genetic heterogeneity contributes to phenotype variability. The most frequent etiology of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. This study aimed to evaluate the genotype-phenotype correlation in NPHP1 gene mutation. Methods: A multicenter retrospective study was performed over 20 years from 1998 to 2018 to describe the clinical, biological, and radiological features associated with the large deletion NPHP1 gene in 32 patients. Results: The incidence of NPHP1 was 1.6/204041. Eighty-one percent of our patients were born out of consanguineous marriages. The mean age at diagnosis was 14 ± 7 years. The patients were divided into three groups: isolated nephronophthisis (72%), syndromic nephronophthisis (19%), and patients without recognizable syndrome (9%). Intrafamilial and geographical variability was observed in syndrome diagnoses and in age at the onset of CKD stage 5. Genotype frequency varied between 50% and 100% in genealogical data. Juvenile (47%), adolescent (37%), and adult (13%) clinical forms have been distinguished by the onset of CKD stage 5. The five-year survival rate of renal transplantation was 80%. Conclusion: Given the broad clinical spectrum of NPHP1 associated with the large deletion of the NPHP1 gene, no genotype-phenotype correlation could be established. [ABSTRACT FROM AUTHOR]

Kidney transplantation remains the best treatment option of end-stage renal disease. Kidney donations are of particular interest with the currently increasing practice of living-donor transplantation. The purpose of this study was to analyze retrospectively the general health status as well as renal and cardiovascular consequences of living-related kidney donation. A total of 549 living-related kidney donors had donated their kidneys between 1986 and 2007. We attempted to contact all donors to determine short- and long-term outcome following kidney donation. All kidney donors who responded underwent detailed clinical and biochemical evaluation. The data were compared with age-matched health tables of the Tunisian general population. In all, 284 donors (52%) had a complete evaluation. They included 117 men and 167 women with a mean age of 42 ± 12 years. The major peri-operative complications that occurred in these donors included four cases of pneumothorax, six cases of surgical site infection, one case of phlebitis and one case of pulmonary embolism. None of the study cases died. The median length of hospital stay after donor nephrectomy was 6.5 days (range: 3-28 days). The median follow-up period was eight years. The mean creatinine clearance after donation was 90.4 ± 25 mL/min in men and 81.5 ± 27.2 mL/min in women. Proteinuria was >300 mg/24 h in 17 cases (5.9%). Fifty-eight (20.4%) donors became hypertensive and 19.6% of the men and 37.2% of the women became obese. Diabetes mellitus developed in 24 (8.4%), and was more common in patients who had significant weight gain. Our study suggests that kidney donors have minimal adverse effects on overall health status. Regular follow-up identifies at-risk populations and potentially modifiable factors. Creation of a national registry of living donors and their monitoring are an absolute necessity.

Gargah Tahar, Lakhoua M RachidDepartment of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, TunisiaBackground: In children, idiopathic nephrotic syndrome (INS) is primarily treated using corticosteroids. When remission is not achieved, the coadministration of potent immunosuppressant therapy becomes imperative. Cyclosporine A (CsA) is reportedly associated with a higher incidence of remission in comparison with other immunosuppressive agents.Methods: The present study investigated the response of combination therapy using CsA and prednisolone in 30 Tunisian children with idiopathic steroid-resistant nephrotic syndrome (ISRNS). Renal histopathology was compatible with focal segmental glomerular sclerosis (FSGS) in 15 children, minimal change disease (MCD) in nine children, and diffuses mesangiale proliferation (DMP) in six children.Results: The therapy protocol produced a complete remission of proteinuria in 15 patients (50%) and a partial remission in nine patients (30%). Six patients (20%) showed no response to therapy. Progression to end stage renal disease occurred in five CsA-resistant children and in four CsA-responsive patients. CsA-related nephrotoxicity was detected by renal biopsy in one patient.Conclusions: CsA remains the primary cytotoxic treatment for childhood steroid-resistant nephrotic syndrome. Its use in combination with corticosteroids provides optimum efficiency without high risk of nephrotoxicity.Keywords: children, corticosteroids, cyclosporine A, nephrotic syndrome

Gargah Tahar1, Goucha-Louzir Rim2, Lakhoua Mohamed Rachid11Department of Pediatric Nephrology, 2Department of Nephrology, Charles Nicolle Hospital, Tunis, TunisiaAbstract: Tuberculosis (TB) remains a public health problem in Tunisia. Its incidence is higher in immunocompromised hosts than in the general population. In children and during hemodialysis, TB is characterized by the frequency of extrapulmonary localizations and diagnostic difficulties. The aim of this retrospective study is to evaluate the incidence of TB in Tunisian children undergoing hemodialysis and to determine its clinical features as well as the results of chemotherapy.Method: This retrospective study includes seven TB children among 112 children on hemodialysis at the pediatric nephrology department in Charles Nicolle Hospital from 2002 to 2008. The diagnosis of TB was established by a combination of clinical, radiological, biochemical, microbiological, and histological examinations. Treatment with anti-TB drugs, the results of therapy, and the outcome of patients were noted.Results: There were four girls and three boys aged 10 to 16 years (mean, 13 years). They had been on hemodialysis for 2 to 5 years (mean, 3 years). Noted clinical features were weight loss and fever in five cases, chest pain in one case, cervical lymph node in one case, and spinal pain in one case. The organ systems involved were pleural in two cases, pulmonary in one case, peritoneal in one case, cervical lymphatic in one case, and spinal in one case. One patient was treated empirically with a good response. Diagnosis was made by isolation of mycobacterium TB in three cases, by specific histological signs observed in a lymph node biopsy in one case, in peritoneal biopsy in one case, and in discovertebral biopsy in one case. In the remaining patient, the clinical and radiological presentations were compatible with pulmonary TB. All patients received four anti-TB drugs: isoniazid, rifampicin, pyrazinamide, and ethambutol. One patient died with miliary TB. The other patients had favorable outcomes.Conclusions: TB in hemodialysis children has a nonspecific clinical presentation. Extrapulmonary locations are most common. Diagnosis is often difficult, but successful outcomes are possible when made at an early stage.Keywords: child, hemodialysis, tuberculosis

Hereditary xanthinuria type I, a defect of purine matabolism, results from a genetic deficiency of xanthine oxidase. It is an uncommon cause of stone formation in children. We report here two children with xanthine urolithiasis. The first patient was an 8-year-old boy who presented with repeated episodes of hematuria evaluated with excretory urography, which demonstrated radio-lucent pelvic stone in the right kidney, causing hydronephrosis. He had pyelolithotomy, and the extracted stone consisted of pure xanthine. Family study revealed an asymptomatic xanthinuria in younger brother. The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. Nephrectomy was performed, and histology revealed end-stage pyelonephritis. The calculi consisted of pure xanthine. In both patients, plasma and urinary concentrations of uric acid were low but xanthine and hypoxanthine concentrations were markedly elevated. Xanthine uroli-thiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines. However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrec-tomy and renal failure.

To report the surgical complications among our pediatric and adolescent renal transplants and to compare these results with other reported series in the literature. A total of 50 pediatric and adolescent renal transplants were included in this study. There were 30 boys and 20 girls with a mean age of 13 years (range 6 - 18 years). 70% of patients received their kidneys from living donors. Two patients underwent renal re-transplantation. Among the 52 transplantations, 17 surgical complications were encountered in 15(30%) patients. The incidence of urological and vascular complications was respectively 13.2% and 18.9%. These complications included vesico-ureteral reflux (9.4%), urinary leakage (3.8%), lymphocele (5.8%), peri-renal hematoma (1.9%), renal artery stenosis (3.7%), and thrombosis of the allograft (7.5%). The patients with vesico-ureteral reflux were treated by antibiotic prophylaxis. In four recipients, thrombosis of the allo-graft with subsequent graft loss occurred. The graft survival rate was 90% in 1 year, 77% in 5 years and 40% in 10 years follow-up. The patient survival rate was 94.4% in 1 year and 84% after 8 years follow-up. We conclude that surgical complications can be minimized if basic principles of careful transplant techniques are used. Prompt identification and treatment of any complication are critical for graft and patient survival.

Abstract Takayasu arteritis is a large vessel systemic granulomatous vasculitis characterized by stenosis or obliteration of large and medium sized arteries. It commonly involves elastic arteries such as the aorta and its main branches. Renal artery involvement is rare and has not been reported in a child. We report a 12-year-old boy with Takayasu arteritis who developed severe hypertension, proteinuria, microscopic hematuria and renal dysfunction. Conventional angiography demonstrated aneurysms of both renal arteries and multiple microaneurysms of the superior mesenteric artery. This case report illustrates that the children with Takayasu arteritis can develop renal involvement resulting in hematuria, proteinuria and even renal failure.