[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

[Variation of troponin T in chronic hemodialysis patients: study about 52 cases]

Patients with severe renal dysfunction have unexplained elevated serum concentrations of cardiac troponin T. Study the frequency of elevated cTnT in hemodialysis patients and investigated whether cTnT is elevated. The patient population consisted of 52 patients on maintenance hemodialysis and 20 healthy subjects. cTnT was measured before and after hemodialysis by using immunoenzymatic method. cTnT were undetectable in 7 cases[<0.01ng/ml] and higher than normal range[up to 0.1ng/ml] in 9 cases. 32 cases have a level of cTnT >0.01 and <0.1ng/ml. In addition, TnTc levels are significantly associated with cardiac dysfunction [p<0.05] and inflammation [p<0.01]. After hemodialysis sessions, TnTc was less than 0.01 ng /1 in 11 patients [21.2%], between 0.01 and 0.1 ng / ml in 32 subjects [61.5%] and greater than 0.1 ng / ml in 9 subjects [17.3%]. In the control group, only 1 subject [5%] had a rate of TnTc between 0.01 and 0.1 ng / ml, whereas it was less than 0.01 ng / ml for all others. We aim a statistically significant positive correlation between the rate of TnTc and heart failure [p <0.05] on the one hand and serum CRP [p <0.01] on the other. The causes of elevated cTnT levels in hemodialysis patients was multiple: cardiac dysfunction, left ventricular dysfunction and inflammation

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

[Protein profile - concept and clinical interest]

The protein profile consists in a simultaneous assay of many proteins in serum that explores many physiopathological axes. The results are expressed in percentage of the median value [100%] related to the patient's age and sex. There are two types of protein profiles: a directed profile and a targeted profile. This exam which is based on the study of the correlation between proteins, has ameliorated the screening, the diagnosis and the survey of many biologic syndromes. The aim of this article is to review the concept of protein profile in the different biological syndromes

[ interest of biochemical markers of bone turnover for monitoring treatment of postmenopausal osteoporosis]

Postmenopausal osteoporosis is especially female pathology, whose incidence increases with age. The purposes of this study are to evaluate the level of bone turnover by the determination of markers of bone formation [PAL, BAP] and marker of bone resorption [CTX] in the osteoporotic women, to study the correlations between bone biochemical markers, clinical parameters and radiological measurements and to assess the interest of biochemical markers in therapeutic monitoring after 6 months of antiresorptive treatment. The authors report a prospective study of 134 osteoporotic women classified in two groups according to the presence of osteoporotic fracture. Patients of the first group G[1] [n=102] with fractures, were treated by the bisphosphonates [risedronate], whereas the ones of the second group G[2] [n=32] without fractures, were submited to calcic supplementation and vitamin D. The analyses showed that the femoral and lumbar BMD were statistically lower in the presence of osteoporotic fractures. However, the values of CTX were statistically higher in the patients of G[1] group compared to those of the G[2] group [0,708 +/- 0,332 mg/ml versus 0,514 +/- 0,225 mg/ml]. The CTX were statistically correlated with the femoral and lumbar BMD [r = -0,21, p<0,05 and r = -0,348, p<0,001]. The hypovitminosis were observed in 50,98% [52/102] of women with osteoporotic fractures, whereas it was only 25% [8/32] in women without fractures. After 6 months of treatment by the bisphosphonates, the PAL, the BAP and the CTX have decreased with an average of, respectively, 19%, 46,5% and 62,9%. These variations were significantly more important in G[1] group. The biochemical markers of bone turnover, in particular those of the resorption [CTX], can predict the post-menopausal woman's bone loss evaluated by BMD, the risk of fractures and the efficiency of the bone treatments

[Biological markers of osteoarthritis]

Osteoarthritis is the most frequent pathology of rheumatologic affections. With the progressive ageing of the populations, it becomes a major problem of public health. Active research is under way to clarify the pathophysiology and the prognosis of this disease and to identify new targets for treatments. Recently, the development of several biological markers measured in blood, urine and/or synovial fluid by immunological methods reflect the joint tissues remodelling. The most specific markers of articular formation are mainly N and C-propeptides of type Ii procohagen [PHANP and PIIC]. The activity of the cartilage degradation is indicated by the C-terminal telopeptide of type II collagen [CTX II] and COMP [cartilage oligometric matrix protein]. The hyaluronate constitutes the most used parameter for the evaluation of the activity of synthesis of the synoviocytes. The study of the interest of measuring the bone turnover markers during osteoarthritis showed contradictory results. Consequently, the interest itself is still not definite. As the evolution of osteoarthritis is unpredictable and there is no parallelism between the clinical and the radiological signs, the biological parameters could constitute predictive factors of the evolution of this pathology and direct the therapeutic attitude. A large number of studies would be necessary to standardize assay methods of these markers and to optimize their practical use