Arab journal of nephrology and transplantation最新文献_第5页

Acute kidney injury: global health alert. 急性肾损伤:全球健康警报。

Arab journal of nephrology and transplantation Pub Date : 2013-05-01

Philip Kam Tao Li, Emmanuel A Burdmann, Ravindra L Mehta

{"title":"Acute kidney injury: global health alert.","authors":"Philip Kam Tao Li, Emmanuel A Burdmann, Ravindra L Mehta","doi":"","DOIUrl":"","url":null,"abstract":"Acute kidney injury (AKI) is increasingly prevalent in developing and developed countries and is associated with severe morbidity and mortality. Most etiologies of AKI can be prevented by interventions at the individual, community, regional and in-hospital levels. Effective measures must include community-wide efforts to increase an awareness of the devastating effects of AKI and provide guidance on preventive strategies, as well as early recognition and management. Efforts should be focused on minimizing causes of AKI, increasing awareness of the importance of serial measurements of serum creatinine in high risk patients, and documenting urine volume in acutely ill people to achieve early diagnosis; there is as yet no definitive role for alternative biomarkers. Protocols need to be developed to systematically manage prerenal conditions and specific infections. More accurate data about the true incidence and clinical impact of AKI will help to raise the importance of the disease in the community, increase awareness of AKI by governments, the public, general and family physicians and other health care professionals to help prevent the disease. Prevention is the key to avoid the heavy burden of mortality and morbidity associated with AKI.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":"6 2","pages":"75-81"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31528446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Type 1/type 2 cytokine serum levels and role of interleukin-18 in children with steroid-sensitive nephrotic syndrome. 1型/ 2型细胞因子血清水平及白细胞介素-18在类固醇敏感性肾病综合征患儿中的作用

Arab journal of nephrology and transplantation Pub Date : 2013-05-01

Sherein A Shalaby, Howaida M Al-Edressi, Shereen A El-Tarhouny, Mohamed Fath El-Bab, Mohamed A Zolaly

{"title":"Type 1/type 2 cytokine serum levels and role of interleukin-18 in children with steroid-sensitive nephrotic syndrome.","authors":"Sherein A Shalaby, Howaida M Al-Edressi, Shereen A El-Tarhouny, Mohamed Fath El-Bab, Mohamed A Zolaly","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: In view of the conflicting evidence of helper T cell type 1 (Th1) or type 2 (Th2) pattern of cytokine synthesis in steroid sensitive nephrotic syndrome (SSNS), this study aimed to assess type-1/type-2 cytokines level in different stages of SSNS and to evaluate the role of IL-18.Methods: We prospectively studied thirty children with SSNS, aged 2-12 years. The children were evaluated in the active stage before treatment initiation and re-evaluated again during remission while still on steroid treatment. A subgroup of children (21/30) was also evaluated during remission after steroid withdrawal. The control group included 30 healthy age- and sex-matched siblings. Serum levels of IL-2, IFN-γ, ΙL-4, IL-13 and IL-18 were measured by ELISA.Results: IL-2 levels were not significantly different between children in different stages of SSNS and controls (p>0.05). Levels of IL-4, IL-13 and IL-18 were significantly higher during the active stage of SSNS compared to remission and controls (p<0.05). Serum IFN-γ was significantly lower in children with active disease compared to remission stages and controls (p<0.05). In children with SSNS, serum levels of IL-18 correlated significantly with both IL-4 and IL-13 during all stages (r=0.72 and p<0.0001, r=0.82 and p<0.0001, respectively).Conclusion: Children with active SSNS seem to have a shift to type-2 cytokine production, and IL-18 expression is significantly correlated with this type-2 immune response.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":"6 2","pages":"83-8"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31415280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parameters to assess nutritional status in a Moroccan hemodialysis cohort. 评估摩洛哥血液透析队列营养状况的参数。

Arab journal of nephrology and transplantation Pub Date : 2013-05-01

Taoufiq Aatif, Kawtar Hassani, Ahmed Alayoud, Omar Maoujoud, Samir Ahid, Mohamed Benyahia, Zouhair Oualim

{"title":"Parameters to assess nutritional status in a Moroccan hemodialysis cohort.","authors":"Taoufiq Aatif, Kawtar Hassani, Ahmed Alayoud, Omar Maoujoud, Samir Ahid, Mohamed Benyahia, Zouhair Oualim","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Malnutrition is common in maintenance hemodialysis (HD) and is associated with increased mortality and morbidity in affected patients. The aim of this study was to determine the prevalence of malnutrition and correlate the methods of nutritional assessment.Methods: We evaluated the nutritional status of 40 prevalent HD patients by subjective global assessment (SGA) score, anthropometrics [body mass index (BMI), arm circumference (AC), triceps skin-fold thicknesses (TSF), arm muscle circumference (AMC)], biochemical tests [normalized protein equivalent to total nitrogen appearance (nPNA), and pre-dialysis serum albumin and serum prealbumin levels] and bio-electrical impedance (BEI) analysis to estimate body composition [lean tissue index (LTI) and fat tissue index (FTI)].Results: The study assessed 40 patients (20 males and 20 females) with a mean age of 50.7±16.5 years. The prevalence of malnutrition according to the different methods ranged from 5 % to 65%. There were highly significant gender-specific differences in AMC (p<0.001) and TSF (p<0.001). The BEI revealed a highly significant difference in LTI (p<0.001) but no difference in FTI (p=0.14) according to gender. There was a positive correlation between LTI and both serum albumin (r=0.37; p=0.018) and serum prealbumin (r=0.53; p<0.001). Also, there was a significant positive correlation between FTI and BMI (r=0.59; p<0.001), AC (r=0.44; p=0.004) and TSF (r=0.61; p<0.001).Conclusion: Our data suggest that BEI analysis provides a useful means of assessing nutritional status and was correlated with anthropometrics and biochemical findings.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":"6 2","pages":"89-97"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31415281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Acute kidney injury: global health alert. 急性肾损伤:全球健康警报。

Arab journal of nephrology and transplantation Pub Date : 2013-01-04 DOI: 10.15582/IJPD/2013/50647

P. Li, E. Burdmann, R. Mehta

{"title":"Acute kidney injury: global health alert.","authors":"P. Li, E. Burdmann, R. Mehta","doi":"10.15582/IJPD/2013/50647","DOIUrl":"https://doi.org/10.15582/IJPD/2013/50647","url":null,"abstract":"Acute kidney injury (AKI) is increasingly prevalent in developing and developed countries and is associated with severe morbidity and mortality. Most etiologies of AKI can be prevented by interventions at the individual, community, regional and in-hospital levels. Effective measures must include community-wide efforts to increase an awareness of the devastating effects of AKI and provide guidance on preventive strategies, as well as early recognition and management. Efforts should be focused on minimizing causes of AKI, increasing awareness of the importance of serial measurements of serum creatinine in high risk patients, and documenting urine volume in acutely ill people to achieve early diagnosis; there is as yet no definitive role for alternative biomarkers. Protocols need to be developed to systematically manage prerenal conditions and specific infections. More accurate data about the true incidence and clinical impact of AKI will help to raise the importance of the disease in the community, increase awareness of AKI by governments, the public, general and family physicians and other health care professionals to help prevent the disease. Prevention is the key to avoid the heavy burden of mortality and morbidity associated with AKI.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":"6 2 1","pages":"75-81"},"PeriodicalIF":0.0,"publicationDate":"2013-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67101329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Urinary albumin and interleukin-8 levels are not good indicators of ongoing vesicoureteral reflux in children who have no active urinary tract infection. 在没有活动性尿路感染的儿童中，尿白蛋白和白细胞介素-8水平并不是持续膀胱输尿管反流的良好指标。

Arab journal of nephrology and transplantation Pub Date : 2013-01-01

Hamidreza Badeli, Termeh khoshnevis, Afagh Hassanzadeh Rad, Mehrdad Sadeghi

{"title":"Urinary albumin and interleukin-8 levels are not good indicators of ongoing vesicoureteral reflux in children who have no active urinary tract infection.","authors":"Hamidreza Badeli, Termeh khoshnevis, Afagh Hassanzadeh Rad, Mehrdad Sadeghi","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Vesicoureteral reflux (VUR) is a risk factor for kidney scarring, hypertension and declining renal function. Standard diagnostic methods are invasive and can cause exposure to radiation and urinary tract infections (UTIs). We aimed to investigate urine albumin and interleukin-8 levels as markers of ongoing VUR and renal damage in children without UTIs.Methods: Random urine samples were collected from 51 children, including 16 children with VUR (group A), 17 children with resolved VUR (group B) and 18 normal children (group C). The diagnosis of VUR or resolved VUR was confirmed by voiding cystourethrogram (VCUG) or direct radionuclide cystography (DRNC). All children had normal kidney function and had no evidence of UTI in the preceding three months. Random urine specimens were assayed for albumin (Alb), creatinine (Cr) and interleukin-8 (IL-8) and mean values were compared by one way ANOVA.Results: In groups A and B, the mean age at first UTI was 31.7 ± 2.4 and 27 ± 2.0 months respectively. In group A, the mean duration between VUR diagnosis and study entrance was 30 ± 9.1 months. In group B, the mean duration between VUR diagnosis and recovery was 19.9 ± 1.3 months. Overall, 76.4% of affected children had bilateral VUR and 41.2% had severe VUR. There were no significant differences in urinary Alb, IL-8, Alb/Cr and IL-8/Cr between the three groups.Conclusion: The current study does not support the hypothesis that microalbuminuria or urinary IL-8 are good indicators of ongoing VUR and renal injury in children.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":" ","pages":"27-30"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chronic renal allograft dysfunction: risk factors, immunology and prevention. 慢性同种异体肾移植功能障碍:危险因素、免疫学和预防。

Arab journal of nephrology and transplantation Pub Date : 2013-01-01

Wafaa Fadili, Mustapha Habib Allah, Inass Laouad

{"title":"Chronic renal allograft dysfunction: risk factors, immunology and prevention.","authors":"Wafaa Fadili, Mustapha Habib Allah, Inass Laouad","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Kidney transplantation is the treatment of choice for patients with end-stage renal disease. Despite great progress in surgical aspects and immunosupression therapy, long-term graft survival has not been consistent. Chronic allograft dysfunction (CAD) remains a major cause of late grafts failure.Review: CAD is a generic term of all causes of chronic renal allograft dysfunction associated with fibrosis. It is clinically characterized by a gradual worsening of renal function in the presence of arterial hypertension and low-grade proteinuria. Histological changes of CAD usually precede functional deterioration and include interstitial fibrosis/tubular atrophy accompanied by vascular changes and glomerulosclerosis. Both immunological and non immunological factors can be responsible for CAD. Immunological causes include chronic active antibody-mediated and T cell-mediated rejection. Non immunological factors include brain death in the donor, increasing donor age, ischemia-reperfusion injury, calcineurin inhibitor nephrotoxicity, hypertension, diabetes mellitus, hyperlipidemia, chronic obstruction and chronic viral infections. Even if the contributing factors to CAD can be identified, not all of them can be interrupted prior to and after grafting. Preventive strategies include improvements in medical and surgical strategies to reduce ischemia-reperfusion injury, strategies to minimize acute rejection and strategies aiming for HLA-matched transplants. Additional measures include tight control of blood pressure, proteinuria, lipids and glucose. Antivirus treatment, appropriate diet, weight control, no smoking and good compliance are also suggested in certain settings.Conclusion: Evidence-based treatment strategies for CAD are lacking, but several prevention and management strategies are recommended in clinical practice.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":" ","pages":"45-50"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ANCA negative pulmonary renal syndrome with pathologic findings of thrombotic microangiopathy. ANCA阴性肺肾综合征伴血栓性微血管病变病理表现。

Arab journal of nephrology and transplantation Pub Date : 2013-01-01

Emad Abdallah, Bassam Al-Helal, Abdulrahman Al-Rashidi, Reem Asad

{"title":"ANCA negative pulmonary renal syndrome with pathologic findings of thrombotic microangiopathy.","authors":"Emad Abdallah, Bassam Al-Helal, Abdulrahman Al-Rashidi, Reem Asad","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Thrombotic microangiopathy (TMA) is characterized by aggregation of platelets in the renal and/or systemic circulation, thrombocytopenia and intravascular hemolysis. The syndrome classically spares the lung. The term pulmonary-renal syndrome describes a number of diseases in which pulmonary hemorrhages and glomerulopathy coexist.Case report: We report a 44-year-old man admitted to hospital because of chronic unexplained fever. Six days after admission he developed hemoptysis, respiratory distress and biochemical evidence of acute renal failure. High-resolution computed tomography scan of the chest demonstrated alveolar hemorrhages. The patient developed hypoxia and was shifted to the intensive care unit to be supported by mechanical ventilation. He also received two sessions of continuous veno-venous hemodiafiltration. Kidney biopsy revealed pathological findings of TMA. Serology for anti-neutrophil cytoplasmic antibodies, anti-cardiolipin antibodies and anti-glomerular basement membrane antibodies was negative. The patient was treated with pulse steroids followed by prednisolone with mild improvement. Seven days later, his condition deteriorated with an increase in serum creatinine and pulmonary hemorrhages. His hemoglobin level dropped and he developed features of intravascular hemolysis. A diagnosis of TMA was made and treatment with plasma exchange was initiated. The patient showed dramatic improvement and was discharged in good condition. He remained in remission throughout his subsequent follow up.Conclusion: TMA should be considered in the differential diagnosis of pulmonary renal syndromes, and can be successfully managed by corticosteriods combined with plasma exchange.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":" ","pages":"31-5"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The potential role of nursing students in the implementation of community-based hypertension screening programs in Sudan. 护理专业学生在苏丹实施社区高血压筛查项目中的潜在作用。

Arab journal of nephrology and transplantation Pub Date : 2013-01-01

Suhair Abdelsatir, Aisha Al-Sofi, Sarra Elamin, Hasan Abu-Aisha

{"title":"The potential role of nursing students in the implementation of community-based hypertension screening programs in Sudan.","authors":"Suhair Abdelsatir, Aisha Al-Sofi, Sarra Elamin, Hasan Abu-Aisha","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Hypertension (HTN), diabetes mellitus (DM) and chronic kidney disease (CKD) are important health problems worldwide, and it is possible to reduce their burden through effective HTN screening and treatment programs. It may be feasible to incorporate such programs in the community outreach activities of nursing and medical schools in Sudan.Methods: Village inhabitants in the Northern state of Sudan were invited to attend a free clinic for screening of hypertension as well as for follow up and treatment of persons with previously diagnosed hypertension. Fourth year nursing students from the National Ribat University were asked to record demographic data and blood pressure measurements for the attendants of the clinic.Results: A total of 389 adults were screened, their mean age was 41±15 years and 83.8% of them were females. Family history of HTN, DM and CKD was reported by 52.7%, 40.4% and 12.9% respectively. Personal history of HTN, DM and CKD was reported by 28.5%, 17% and 6.4% respectively. The overall prevalence of HTN was 39.6%. Among persons previously diagnosed as hypertensive, 80.2% were on antihypertensive medication but only 48.6% had blood pressure > 140/90 mmHg. Among the 278 persons with no personal history of HTN, 19.1% had blood pressure ≥ 140/90 mmHg. Variables significantly and independently associated with the presence of HTN were family history of HTN (OR: 6.4, P: 0.005), less than 10 years of formal education (OR: 3.5, P: 0.000) and age ≥ 40 years (OR: 2.4, P: 0.005).Conclusion: With proper coordination, nursing and medical students can effectively contribute to the implementation of hypertension screening programs.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":" ","pages":"51-4"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cystatin C as an early marker of acute kidney injury and predictor of mortality in the intensive care unit after acute myocardial infarction. 半胱抑素C作为急性肾损伤的早期标志物和急性心肌梗死后重症监护病房死亡率的预测因子

Arab journal of nephrology and transplantation Pub Date : 2013-01-01

Mohamed Fouad, Maher Boraie

{"title":"Cystatin C as an early marker of acute kidney injury and predictor of mortality in the intensive care unit after acute myocardial infarction.","authors":"Mohamed Fouad, Maher Boraie","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Early detection of Acute Kidney Injury (AKI) is important. We conducted a prospective observational study to test the ability of cystatin C (CysC) to predict AKI and mortality among in intensive care unit (ICU) patients after acute myocardial infarction (MI).Methods: One hundred patients were enrolled in this study, CysC and serum creatinine (SCr) were measured at admission in the ICU and then daily for three days.We assessed the ability of CysC and SCr at admission to predict sustained AKI and short-term mortality at one month using the area under the receiver operator characteristic curve (AUC).Results: The mean relative increase in CysC after 24 hours was significantly higher than the mean relative increase in SCr (83±66% versus 14±48%; P>0.001).Of 100 patients, 35 patients had >50% increase in either CysC or SCr, seven patients had >50% increase in both markers and 58 patients had neither. CysC increased prior to elevation of SCr more frequently than the reverse (P > 0.0001). Baseline CysC was a good predictor of sustained AKI with an AUC of 0.86 (95% CI; 0.79-0.95), while the AUC of SCr was only 0.54 (95% CI; 0.40-0.69).Baseline CysC was a fair predictor of death with an AUC of 0.76 (95% CI; 0.65-0.87), while the AUC of SCr was only 0.65 (95% CI; 0.50-0.79).Conclusion: CysC was an effective and earlier surrogate marker of decreased renal function than SCr in ICU population after MI. High CysC concentrations predict substantially increased risks of short-term mortality in the ICU after MI.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":" ","pages":"21-6"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gitelman syndrome as a cause of psychomotor retardation in a toddler. 吉特尔曼综合症是幼儿精神运动迟缓的一个原因。

Arab journal of nephrology and transplantation Pub Date : 2013-01-01

Sylva Skalova, David Neuman, Petr Lnenicka, Jitka Stekrova

{"title":"Gitelman syndrome as a cause of psychomotor retardation in a toddler.","authors":"Sylva Skalova, David Neuman, Petr Lnenicka, Jitka Stekrova","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany, fatigue and convulsions due to severe metabolic alkalosis or hypomagnesemia. Manifestations of GS are rarely apparent before the age of five, and the syndrome is usually diagnosed during adolescence or adulthood. Here we describe a case of GS presenting in infancy with hypokalemia and psychomotor retardation.Case report: We present an 18-month-old boy who presented with psychomotor retardation and failure to thrive. Investigations revealed hypokalemia at 2.7 mmol/L, metabolic alkalosis, hypocalciuria and normal serum magnesium level. The diagnoses of Barter syndrome (BS) and Gitelman syndrome (GS) were considered. Genetic studies confirmed the diagnosis of GS and three different mutations of in SLC12A3 gene were detected. Two mutations (c.2576T>C and c.2929C>Ty) were considered as causal ones, with the patient´s parents being the heterozygous carriers. Oral potassium supplementation resulted in normalisation of the hypokalemia and psychomotor improvement.Conclusion: We report a rare case of psychomotor retardation occurring at an early age in genetically confirmed GS. In spite of being a rare disorder, GS has to be considered in children with developmental delay and muscle weakness. With adequate treatment, GS patients have an excellent prognosis.","PeriodicalId":89079,"journal":{"name":"Arab journal of nephrology and transplantation","volume":" ","pages":"37-9"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40205673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0