Concurrence of Bartter syndrome and minimal change nephrotic syndrome

Nephrotic syndrome （NS） is a common disease in children with a group of symptoms including heavy proteinuria （≥50 mg/kg per 24 hours）, hypoalbuminaemia, hypercholesterolaemia and edema. Bartter syndrome （BS） is a clinically and genetically heterogenous kidney disease characterized by hypokalemia, hypochloremic metabolic alkalosis, obvious increase of rennin, angiotesin II, and normal blood pressure. Cases of Banter syndrome were frequently reported in recent years, but the Bartter syndrome accompanied by nephrotic syndrome as the first symptom has not been previously reported. Although BS is not classically associated with proteinuria, there have been a few reported cases of concomitant focal segmental glomerulosclerosis （FSGS） with BS.1-6 Recently, Hanevold et al5 and Sardani et al7 respectively described an African American child with BS and proteinuria whose renal biopsy revealed findings consistent with Clq nephropathy （ClqN）, as well as the expected hyperplasia of the juxtaglomerular apparatus （JGA） which is characteristic of BS. It was previously reported that BS was first diagnosed, and then gradually proteinuria followed, but the simultaneous presence of BS and NS is unusual. We herein present a boy with BS and NS whose renal biopsy revealed findings consistent with glomeruli minimal change disease and BS.     

CLINICAL OBSERVATION ON 617 CASES OF PEDIATRCIC SYNDROME OF ATROPHIC PARALYSIS OF THE LIMBS TREATED WITH ACUPUNCTURE

The syndrome of atrophic paralysis of thelimbs refers to a group of diseases characterizedby atrophy and weakness of the limbs.Patientswith this syndrome are unable to move theirlimbs voluntarily,which may be accompaniedby numbness and muscular atrophy.This diseaseis more commonly seen in the lower limbs.     

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type III

Bartter syndrome type Ⅲ is a Bartter syndrome subtype, which has a group of autosomal-recessive inherited disorders with clinical characteristics such as renal salt wasting, hypokalemic metabolic alkalosis,elevated renin and aldosterone levels, with normal or low blood pressure.1 Unlike other subtypes that often begin in the neonatal period, type Ⅲ, due to mutations in the CLCNKB gene,2-4 is highly variable and usually presents as a ＂classic＂ Barrter variant characterized by an onset in early childhood and less severe or absent hypercalciuria and nephrocalcinosis.     

Plasma ammonia in patients with acute leukemia.

Plasma ammonia level (PAL) was studied in 43 cases of acute leukemia (AL). PAL was 39.21 +/- 26.2 mumol/L in normal controls and 38.8 +/- 16.6 mumol/L in leukemic patients before chemotherapy. High PAL was found in 40 cases after chemotherapy. Six cases showed clinical manifestations due to severe hyperammonemia, including dizziness, lethargy, confusion, coma and mental changes of various degree, and there was also respiratory alkalosis. After ammonia-trapping therapy, 4 of the 5 patients recovered. The authors believe that high PAL is not uncommon after chemotherapy in leukemic patients. Respiratory alkalosis and unexplained mental and neurologic changes following intensive chemotherapy are useful clues for the diagnosis of hyperammonemia syndrome. Early diagnosis and treatment with ammonia-trapping may improve the rates of remission and survival.

     

A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type Ⅲ

Bartter syndrome type Ⅲ is a Bartter syndrome subtype, which has a group of autosomal-recessive inherited disorders with clinical characteristics such as renal salt wasting, hypokalemic metabolic alkalosis,elevated renin and aldosterone levels, with normal or low blood pressure.1 Unlike other subtypes that often begin in the neonatal period, type Ⅲ, due to mutations in the CLCNKB gene,2-4 is highly variable and usually presents as a "classic" Barrter variant characterized by an onset in early childhood and less severe or absent hypercalciuria and nephrocalcinosis.3     

A case-control study on children with Guillain-Barre syndrome in North China

INTRODUCTION Guillain-barre syndrome (GBS), characterized as acute flaccid paralysis (AFP), also called acute inflammatory demyelinating polyneuropathy and Landry抯 ascending paralysis, is an inflammatory disorder of the peripheral nerves. It is characterized by the rapid onset of weakness and often, paralysis of the legs, arms, breathing muscles and face. Abnormal sensations are often accompanied by general weakness. Although most people suffering from GBS take months to recover, som…     

Pathological and High Resolution CT Findings in Churg-Strauss Syndrome

Objective To investigate the Churg-Strauss syndrome (CSS) associated lung involvement,concentrating on clinical characteristics,pathological findings of lung involvements,response to treatment,and prognosis.Methods We retrospectively analyzed the characters of the clinical manifestations,thin-section CT and pathological findings of CSS.The study involved 16 patients.Clinical data were obtained by chart review.All patients underwent transbronchial lung biopsy (TBLB).Six of them underwent surgical lung biopsy as well.Results The patients included 7 men and 9 women,aged from 14 to 61 years (median,47.5 years).Extrathoracic organs involved included nervous system (7/16) and skin (5/16).Respiratory symptoms included cough (12/16),exertional dyspnea (11/16),hemoptysis (4/16),and chest pain (3/16).CT findings included bilateral ground-glass opacities (12/16),bilateral patchy opacities (12/16),and centrilobular nodules (6/16).The pathological findings of TBLB demonstrated increased eosinophils (3/16),vasculitis (3/16),and interstitial pneumonia (16/16).The pathological findings of surgical lung biopsy of 6 cases showed necrotizing vasculitis in 4 cases,capillaries in 5,eosinophilic pneumonia in 3,granulomas in 2,and airway abnormalities in 3.All patients improved in symptoms after therapy during the study period (range,3 to 51 months;median,15 months).Conclusions Asthma may be present in CSS patient when there is bronchial involvement.Ground-glass opacities and consolidation seen on high-resolution CT reflect the presence of eosinophilic pneumonia,vasculitis,and pulmonary alveolar hemorrhage.TBLB has significant limitations for the diagnosis of CSS.Early diagnosis and therapy can result in satisfactory prognosis.     

A case of Hallervorden-Spatz syndrome diagnosed antemortemly.

A sporadic case of Hallervorden-Spatz Syndrome was diagnosed before death. The diagnosis was made on clinical manifestations and histopathology of the tissue fragments obtained from the globus pallidus by stereotaxic brain biopsy. The involvement of thoracolumbar spinal cord is discussed. The cranial computed tomography showed caudate atrophy with bicaudate index (CC/OTcc) of 0.2, and the quotient FH/CC of 1.43, which were indistinguishable from Huntington's disease.

     

Clinical Characteristics,Cytogenetic and Molecular Findings in Patients with Disorders of Sex Development简

The clinical characteristics of patients with disorders of sex development（DSD）, and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome（TS）, one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor（AZF） gene detection revealed the loss of the AZFa＋AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.     

成人巴特综合征并发泛发性骨皮质增生1例

巴特综合征(bartter syndrome,BS)是由Bartter在1962年首先报道的,是临床发病率很低的一种肾小管疾病,国外资料显示为1/106[1].其临床特征为低血钾性碱中毒,血肾素-醛固酮增高,无高血压及水肿,肾活检可见肾小球球旁细胞增生或肥大.     

成人Bartter综合征2例报道并文献复习

目的 分析成人Bamer综合征的临床特点。方法 回顾性分析2例本病。结果 2例均为青年女性，均有不同程度的多饮、多尿、肌无力和抽搐；实验室检查均表现为低血钾、代谢性碱中毒，血肾素活性、血管紧张素Ⅱ及醛固酮明显升高，而血压正常；补钾、补镁、安体舒通等治疗后症状缓解，血钾水平升高。结论 成人出现双下肢乏力，低血钾碱中毒，而血压正常时需考虑本病，本病行立-卧位肾素-血管紧张素-醛固酮测定可基本诊断，必要时行肾穿刺活检；治疗以补钾为主，辅助治疗包括补镁、前列腺素合成酶抑制剂、醛固酮拮抗剂等。     

Bartter综合征临床诊治体会(附3例报告)

目的探讨成人Bartter综合征临床特点。方法对该院3例成人Bartter综合征发病情况、临床表现、实验室检查、治疗等进行综合分析。结果成人Bartter综合征其临床特点有：水、电解质及酸碱失衡；血清肾素、血管紧张素Ⅱ、醛固酮明显增高，血压正常；经补钾、消炎痛、依那普利、安体舒通等综合治疗，效果明显。结论成人Bartter综合征常有低钾血症、低氯性碱中毒，肾素、血管紧张素及醛固酮升高，血压正常有助于鉴别诊断。     

巴特综合征研究进展

巴特综合征（BS）是一种罕见的肾小管疾病,表现为高醛固酮血症、低钾性代谢性碱中毒和多尿、低血容量、低血压、肌无力及生长发育迟缓等一系列实验室和临床特征.BS为常染色体隐性遗传.到目前为止,发现至少5个基因序列与BS有关,分别构成了五种类型的BS：BS 1型为15号染色体长臂（15q15～21.1）的SLC12A1基因突变;BS 2型为11号染色体长臂（11q21～25）的KCNJ1基因突变;BS 3型为1号染色体短臂（1p36）的ClCNKb基因突变;BS 4型为BSND基因突变;BS 5型为细胞外钙离子感受体（CaR）基因突变.不同分型的BS临床表现各异.到目前为止,BS不能治愈,治疗措施主要为纠正电解质失衡,如低钾血症和可能存在的低镁血症.     

Bartter和Gitelman综合征临床特点比较

目的比较Bartter综合征（BarS）和Gitelman综合征（GitS）的临床特点。方法回顾性分析我院内分泌科近28年收治的36例诊断为BarS和GitS患者临床和生化特点。结果36例患者中,BarS组23例,平均年龄（30．6±9．86）岁,发病时平均年龄（28．5±9．58）岁,男女发病比例为11：12。GitS组12例,平均年龄（19．8±3．19）岁,发病时平均年龄（16．5±d．92）岁,男女发病比例为11：1。两组均以双下肢无力,发作性四肢软瘫,多饮、多尿,夜尿增加等症状为主;均表现为血钾降低、尿钾排出增加和代谢性碱中毒;但GitS组血镁和尿钙水平均显著低于BarS（P〈0．05）。BarS组有3例糖尿病,而GitS组则没有。卧立位醛固酮试验显示两组患者。肾素活性、血管紧张素Ⅱ及醛固酮升高、尿醛固酮升高;BarS组7例和GitS组3例患者行肾穿刺活检,肾脏病理表现为肾小球旁细胞增生（6／7vs2／3）、肾间质损害。结论BarS和GitS综合征临床症状和生化改变非常相似,但GitS组男性多见,具有显著的低血镁和低尿钙,而BarS患者可以合并糖尿病。     

17例Gitelman综合征临床分析

目的分析Gitelman综合征的临床特点和实验室特点,进一步提高诊疗水平。方法对解放军总医院近5年来17例(男/女:11/6)患者进行回顾性研究,对其临床症状、实验室、影像学检查结果及诊治情况进行分析。结果 17例患者中15例均有不同程度的下肢乏力,其中软瘫8例;实验室检查表现为低血钾(17/17),低血镁(17/17)、低尿钙(17/17);血肾素活性(17/17)、血管紧张素Ⅱ(14/17)及醛固酮(7/17)明显升高;单纯补钾或联合消炎痛、安体舒通和门冬氨酸钾镁片等药物治疗后症状缓解,但血钾、血镁未升至正常水平。结论 Gitelman综合征以双下肢乏力为主要临床表现,并伴有低血钾、低血镁等,治疗应以补钾、补镁、醛固酮拮抗剂等多种药物联合应用,预后良好。     

甲状腺毒性周期性麻痹患者反跳性高钾血症三例报道并文献复习

甲状腺毒性周期性麻痹（TPP）是由甲状腺毒症引起的一种内分泌急症,主要表现为周期性肌无力和低钾血症,严重威胁患者健康。血钾降低的水平与TPP患者肌无力的严重程度密切相关,补钾治疗能快速缓解患者的肌无力症状和低钾血症。但过量补钾治疗会导致TPP患者出现急性反跳性高钾血症,再次威胁患者的健康。本文报道了3例TPP患者因过量补钾治疗而导致急性反跳性高钾血症,分析引起反跳性高钾血症的危险因素,希望为TPP患者的临床治疗提供更多资料。     

Hypokalaemic paralysis

Hypokalaemic paralysis is a relatively uncommon but potentially life-threatening clinical syndrome. If recognised and treated appropriately, patients recover without any clinical sequellae. The syndrome of hypokalaemic paralysis represents a heterogeneous group of disorders characterised clinically by hypokalaemia and acute systemic weakness. Most cases are due to familial or primary hypokalaemic periodic paralysis; sporadic cases are associated with numerous other conditions including barium poisoning, hyperthyroidism, renal disorders, certain endocrinopathies and gastrointestinal potassium losses. The age of onset, race, family history, medications, and underlying disease states can help in identifying the cause of hypokalaemic paralysis. Initial therapy of the patient with hypokalaemic paralysis includes potassium replacement and search for underlying aetiology. Further management depends on the aetiology of hypokalaemia, severity of symptoms, and duration of disease. This review presents the differential diagnosis for hypokalaemic paralysis and discusses management of the syndrome.     

Hyperthyroidism and periodic paralysis

The periodic paralyses are a rare group of disorders which may be familial, sporadic, occur in association with hyperthyroidism or as a result of potassium loss. A 46-year-old otherwise healthy Filipino male is described who presented with a second episode of paroxysmal painless weakness. Examination revealed a pattern of weakness consistent with a myopathic process (symmetric/proximal). The neurologic examination was otherwise physiologic. The clinical features are described as well as the differential diagnosis, pathophysiology, and treatment. This case also demonstrates the phenomenon wherein periodic paralysis may precede clinical hyperthyroidism.     

表现为严重低钙血症、周期性麻痹的Gitelman 氏综合征

患者,女,63岁,因反复乏力,双下肢瘫痪,双手搐搦50 年,加重2 年入院。查体:P80/min,BP120/70mmHg,BMI23.0kg/m2,WHR0.84,焦虑,四肢肌力正常,膝反射、踝反射轻度减弱。无阳性家族史,无服用利尿剂及泻药史。实验室检查示低血钾(2.77～3.17mmol/L),低血镁(0.31～0.35mmol/L),低血钙(1.79～1.99mmol/L),和低尿钙(0.12～1.10mmol/24h)。血浆肾素活性升高,血浆醛固酮水平正常,PTH水平正常。尿钙及尿肌酐比低(5.17～23.57×10-3mg/mgCr),血气分析显示代谢性碱中毒。在该患者进行的速尿或双氢克尿噻的清除率试验中,使用速尿后其尿量及氯离子的清除率增加,远端肾小管氯离子的重吸收分数降低;而使用双氢克尿噻后以上变化均不明显,提示缺陷位于远曲小管而不是亨利氏襻的厚壁升之段。因此,Gitelman氏综合征(Gitelman'ssyndrome,GS)诊断明确。给予消炎痛50mg,tid治疗3d后,复查患者的血钾水平开始上升,但血镁及血钙水平无明显改善,加用氨苯蝶啶50mg,tid治疗,4d后发现血钾及血钙水平恢复正常,血镁从0.35mmol/L升到0.52mmol/L出院;院外随访18个月,复查血钾、血钙及血镁水平完全恢复正常。GS可伴有严重低钙血症、周期性麻痹,肾脏清除率试验在临床上可帮助诊断,消炎痛及氨苯蝶啶联合应用治疗有效。     

313例6岁以下小儿肾脏疾病病理特点及其与临床表现的关系

目的:了解6岁以下小儿肾脏疾病病理特点及其与临床表现的关系.方法:对313例临床诊断为14种肾脏疾病的6岁以下小儿进行肾组织病理检查.采用快速经皮肾活检术,将穿刺取得的组织分成3部分,按常规方法所有病例分别进行光镜、电镜及免疫荧光检查,标本均作HE,PAS,PASM及Masson染色,均应用免疫荧光检测肾组织中IgG,IgM,IgA,C3,C4,C1q及Firibn,部分病例根据血化验乙肝抗原阳性者加做免疫荧光检测肾组织中的HBsAg,HBeAg和HBcAg.本组290例(92.65%)进行了电镜检查.结果:313例肾活检成功率为100%;临床主要表现为持续性血尿103例(32.92%),单纯性肾病82例(26.21%),急性肾炎综合征63例(20.14%),紫癜性肾炎26例(8.32%),乙肝相关性肾炎15例(4.79%),孤立性蛋白尿8例(2.56%)等;病理改变主要为系膜增生性肾A炎162例(51.75%),IgM肾病26例(8.31%),微小病变扣轻微病变25例(7.99%),IgA肾病23例(7.35%),毛细血管内增生性肾小球肾炎16(5.11%),局灶节段性肾小球硬化14例(4.47%),薄基底膜病14例(4.47%),膜性肾病14例(4.47%)等.通过电镜检查,使Alport综合征、先天性肾病、薄基底膜病得以明确诊断.通过肾活检组织免疫病理学检查,使IgA肾病、IgM肾病及C1q肾病得以确诊.结论:临床表现类似的疾病病理类型不同,同一病理类型的疾病,临床表现可以多样.肾活检病理诊断对6岁以下小儿肾脏疾病的诊断、治疗、估计预后均有重要价值.电镜在肾病理检查中起到不可忽视的作用.