[Gitelman syndrome revealed by myoclonus pediatric case report]

Gitelman's syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. Patients are often asymptomatic, except for short periods of weakness, tetany or abdominal pain. Myoclonus are rarely reported and misleading with juvenile myoclonic epilepsy. We report a case of 10-year-old girl who had frequent myoclonia occur early in the morning. The brain magnetic resonance image was normal. The electroencephalogram showed an epileptiform discharges. The diagnosis of juvenile myoclonic epilepsy was chosen and patient was treated by valproate. Six month later, she was showed continuous nonconvulsive status epilepticus activity, which could not be suppressed with intravenous diazepam. The clinical and laboratory findings were in accordance with Gitelman syndrome. He has been followed up for 6 months and has suffered no myoclonia under magnesium, potassium and thiazidic

[AA renal amyloidosis in child: a report of 5 cases]

AA amyloidosis is a rare but serious complication of chronic inflammatory diseases and chronic infections. The kidney is the most frequently affected organ in AA amyloidosis. In order to analyse the clinical and histologic characteristics of AA amyloidosis in our pediatric population, to describe their aetiology and to examine clinical out-come. Retrospective study of 5 cases of AA amyloidosis diagnosed from 1997 to 2006 in our department. 5 cases, 3 girls and 2 boys, with median age at diagnosis of 10 years and 9 meonths. The AA amyloidosis aetiologies were: 3 cases with familial Mediterranean fever and 2 with juvenile chronic arthritis. In 2 patients, diagnosis was done through renal biopsy, in 2 patients by rectal biopsy and in one patient by salivary biopsy. All patients progressed to end-stage renal failure 3 years follow up diagnosis. AA renal amyloidosis has a low incidence in our children population but it remains dramatic complication. Rheumatological disorders and familial Mediterranean fever are the principal aetiology. The prognosis tends to be better with hemodiyalisis

Nephrocalcinosis in neonates: report of 5 cases

The nephrocalcinosis is a pathologic entity rarely revealed to the neonatal period. The etiologies are dominated by hypercalciuria of prematurity whose origin is mostly iatrogenic. In full-term newborn, it refers primarily to the early revelation tubulopathy [distal tubular acidosis, Bartter syndrome] and primary hyperoxaluria, pathology common in the North African population. The prognosis depends on the extension of calcium deposits, the etiology and therapeutic options. In the pediatric nephrology department of the Charles Nicolle hopital, and during a period of 7 years from 2002 to 2008, we supported for nephrocalcinosis, 5 full-term newborns who fall into 3 boys and 2 girls. The average age of discovery is 19 days with extremes of 15 to 25 days. Consanguinity was present in 4 cases. The circumstances of discovery are: Acute dehydration with underweight in 2 patients. A urinary tract infection in one patient. NeonataI convulsions secondary to hypomagnesaemia. A chance discovery in the exploration of a symptomatology evocative of a gastrosophageal ref lux disease in a patient. Explorations turned up the diagnosis of distal tubular acidosis in 2 patients, a primary hyperoxaluria in 1 patient, idiopathic hypercalciuria in a patient and a family hypomagnesaemia with hypercalciuria and nephrocalcinosis in another patient

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of two cases

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive tubular disorder caused by CLDN-16 mutations. CLND-1 6 gene encodes the renal tight junction protein claudin 16 [formerly paracelline-1]. This is an unusual cause of chronic renal failure. Case 1: a 9-month-old girl was hospitalized for urinary tract infection. The systematic renal ultrasound scanning showed a bilateral medullary nephrocalcinosis. The diagnosis hypomagnesemia with hypercalciuria and nephrocalcinosis has been established after a metabolic investigation. The follow up was marked by the deterioration of renal function. Case n°2: A boy with nephrocalcinosis was referred for investigation at the age of 15 months. in his history, he had seizures at the age of 5 days. The family inquiry revealed the same disease in uncle and maternal grandfather. The age of revelation of this disease is relatively early in our patients compared with those reported in the literature. The nephrocalcinosis and deterioration of renal function seems inevitable despite substitution treatment

[Treatmentofsteroid-esistantidiopathicnephrosiswithimmunosuppressivetherapy in 30 children]

The aim of this study is to evaluate the efficacity of immunosuppressive therapy in steroid - resistant idiopathic nephrotic syndrome. 30 children present to the renal biopsy a focal and segmental glomerulosclerosis [HSF 18 cases], minimal change disease [LGM: 9 cases] and diffuse mesangial proliferation [PMD: 3 cases]. 9 of 11 patients did not respond to cyclophosphamid. 28 patients received the cyclosporine - prednisone combinaison with a cyclosensibility in 23 patients [80 per cent]. The mycophenolate mofetil [MMF] was used in 7 patients, and 3 were in remission. In this study 7 patients [23 per cent] develop a chronic renal failure. the cyclophosphamid has not beneficial effects. The cyclosporine is an effective therapeutic agent. MMF has emerged as an important new therapeutic option for the treatment of SNCR and HSF