Rhabdomyolysis associated with hypokalaemic periodic paralysis of renal tubular acidosis

Two cases of hypokalaemia with serum potassium levels of 1.4 mmol/L and 1.9 mmol/L causing severe periodic paralysis since childhood are presented. There were associated with muscular aches and markedly raised muscle enzymes suggesting massive rhabdomyolysis. These abnormalities were due to renal tubular acidosis with markedly acidic arterial pH. The hypokalaemia and rhabdomyolysis responded to potassium and bicarbonate replacement. We postulate these patients had sporadic distal type of renal tubular acidosis and that the hypokalaemia and acidosis had caused the rhabdomyolysis.     

Type IV renal tubular acidosis associated with Alport's syndrome.

A case of hereditary nephritis with mild reduction of renal function associated with renal tubular acidosis type IV is described. The patient was admitted with life-threatening hyperkalaemia. To our knowledge, type IV renal tubular acidosis has not been reported previously in association with Alport''s syndrome in an adult patient.     

Purpura associated with hypergammaglobulinemia, renal tubular acidosis and osteomalacia.

Two patients with hyperglobulinemia associated with purpura were studied. One had features of Sjögren's syndrome, while the other appeared to have a primary condition -- "chronic benign purpura". Both patients also had renal tubular acidosis, osteomalacia and renal calculi, with disturbed calcium metabolism and acid-base balance. Autoantibodies were detected in the serum of both patients, and mononuclear cell infiltrates were noted in skin and kidney biopsies from both.     

Incomplete distal renal tubular acidosis with nephrocalcinosis

We report the case of a female patient with incomplete distal renal tubular acidosis with nephrocalcinosis. She was admitted to the hospital because of acute pyelonephritis. Imaging studies showed dual medullary nephrocalcinosis. Subsequent evaluations revealed hypokalemia, hypocalcemia, hypercalciuria, and hypocitraturia with normal acid-base status. A modified tubular acidification test with NH4Cl confirmed a defect of urine acidification, which is compatible with incomplete distal tubular acidosis. We treated our patient with potassium citrate, which corrects hypokalemia and prevents further deposition of calcium salts.     

Idiopathic hypergammaglobulinaemia associated with nephrogenic diabetes insipidus and distal renal tubular acidosis.

Renal tubular dysfunction may be recognized in patients suffering from urinary light chain disease or non-myelomatous hypergammaglobulinaemia. We report a patient who has the combination of distal renal tubular acidosis and nephrogenic diabetes insipidus in association with hypergammaglobulinaemia due solely to increased IgG. We postulate that the abnormalities of distal nephron function resulted from cell-mediated immune damage.     

肾小管性酸中毒148例临床分析

目的探讨肾小管性酸中毒(RTA)的病因、分型、临床特点,以助早期诊断及治疗,减少严重并发症的发生。方法回顾性分析148例RTA患者的临床资料。结果病因原发性RTA占34.5%、继发性RTA占65.5%;临床分型Ⅰ型占77.0%、Ⅱ型占9.5%、Ⅲ型占11.5%,Ⅳ型占2.0%。女性RTA病因以原发性干燥综合征多见(27.5%);成人RTA最常见的临床表现为肌无力(75.5%),儿童以生长发育落后多见(57.1%)。结论 RTA临床表现多样,多种疾病可以继发RTA,临床医生要提高对RTA的认识;RTA伴生长发育落后的儿童使用生长激素追赶生长治疗值得重视。     

干燥综合征合并肾小管性酸中毒

目的：结合实验检测及肾脏病理，了解干燥综合征中肾小管性酸中毒的发生情况。方法：对我科１９８８年１月～１９９７年１月收治的４０例干燥综合征（ＳＳ）肾脏损害患者进行常规、免疫学、肾小管功能及肾活检等检查。结果：２８／４０为远端肾小管性酸中毒（ｄＲＴＡ），１３／２８合并其他自身免疫性疾病，１８／２８合并低钾性麻痹，３／２８合并肾性尿崩症。６７．９％患者为高免疫球蛋白Ｇ血症，５７．１％和５０％患者抗ＳＳ－Ａ、抗ＳＳ－Ｂ抗体阳性。１１／２８行肾活检，发现肾小管间质中有大量淋巴细胞和浆细胞浸润，部分小管萎缩，间质纤维化。２０／２８例患者用激素治疗，４／２８例合并用环磷酰胺治疗。结论：ＳＳ合并ｄＲＴＡ常见，长期中、小剂量激素治疗可减少肾小管及间质损害，改善肾功能     

干燥综合征合并完全型肾小管性酸中毒

目的：为提高对干燥综合征（ＳＳ）并发完全型肾这性酸中毒（ＲＴＡ）的认识。方法：对２２例ＳＳ合并完全型ＲＴＡ患者的临床资料进行总结。然后对其中２１例原发ＳＳ（ＰＳＳ）合并完全型ＲＴＡ的患者与另外３７例无肾脏受累的ＰＳＳ进行对比分析。结果：列同时合并有提示近端肾小管受损的糖尿和尿酸尿外，均突出表现为１型肾小管性要到中毒。发作性软瘫、多饮多尿和骨痛／关节痛是最常见的症状；多数患者（６８．１８％，１５／２     

原发性干燥综合征骨软化合并肾小管酸中毒1例

干燥综合征也称为Sjogren综合征，是临床上常见的一种风湿免疫病。由于外分泌管受到损伤，所应分泌的液体明显减少，故表现为眼干、口干和外阴道干涩，部分患者合并肾小管酸中毒，一般诊断并不困难。然而，若患者以骨损害为主要表现，常会误诊，延误治疗。     

肾小管性酸中毒38例分析

目的：为提高对肾小管性酸中毒（RTA）的认识,以减少误诊、改善预后。方法：对38例RTA的临床资料进行回顾性分析。结果：38例RTA中I型26例,Ⅱ型5例,Ⅲ型3例,Ⅳ型4例;27例合并生长落后,有骨骼损害者20例;38例均存在不同程度的代谢性酸中毒,其中合并阴离子间隙（AG）正常者35例;误诊26例,误诊率68.4%。结论：临床上对反复发生代谢性酸中毒患者,特别对同时伴有生长发育障碍,骨骼损害者应及早计算AG,以便早期诊断,减少误诊的发生。     

肾小管酸中毒合并与未合并自身免疫性疾病患者的临床特点分析

目的探讨肾小管酸中毒（RTA）合并与未合并自身免疫性疾病患者的临床表现及免疫学特点。方法回顾性分析1999--2009年收治的60例合并自身免疫性疾病与40例未合并自身免疫性疾病RTA患者的临床表现、免疫学检查及肾小管功能等资料。结果合并自身免疫性疾病患者共60例,59例为I型RTA,1例为Ⅱ型RTA,合并的自身免疫性疾病主要为干燥综合征,55例（92％）;最常见的临床表现为无力软瘫（50例,83％）、多饮多尿（28例,47％）、关节痛（28例,47％）和骨病变（24例,40％）。与不合并自身免疫性疾病的40例RTA患者相比,骨病变（40％与20％）及关节痛（47％与22％）的发生率增高（均P〈0．叭）,甲状旁腺激素水平均显著升高（P〈0．05）;抗核抗体（ANA）、抗SSA抗体、抗SSB抗体阳性率分别为88％（49／56）、84％（47／56）和43％（24／56）,均高于未合并自身免疫性疾病者（均P〈0．05）。结论RTA合并的自身免疫性疾病中,干燥综合征最为多见,骨病变及关节痛发生率高于未合并自身免疫性疾病患者;对有相关症状的患者尽早完成相关检查,以利早期诊断和治疗。     

整合素连接激酶在梗阻性肾病合并肾小管酸中毒中的表达

目的：观察整合素连接激酶（ILK）在梗阻性肾病合并肾小管酸中毒中的表达,探讨肾小管酸中毒在致肾间质纤维化中的作用。方法实验大鼠75只,其中假手术组大鼠25只,单侧输尿管梗阻（UUO）大鼠50只。UUO大鼠于术后第7天分为肾小管酸中毒大鼠（UUO1组,n＝31）和非肾小管酸中毒大鼠（UUO2组,n＝19）,同时做肾功能与组织学检测,于手术后7、14、21、28 d时分批处死大鼠,免疫组织化学与 Western blot法测定肾组织中 ILK的表达。结果与 UUO2组比较,UUO1组光镜下炎症细胞浸润和间质纤维化程度更严重;假手术组仅有少量的 ILK蛋白表达,几乎无纤粘连（FN）蛋白的沉积,UUO2组 ILK蛋白表达及 FN蛋白的沉积增多,而 UUO1组较 UUO2组增多。结论在梗阻性肾病中,肾小管酸中毒可上调 ILK蛋白的表达与FN的沉积,加速肾小管间质纤维化。     

Mitochondrial disorders manifested as renal tubular acidosis and recurrent seizures

To the editor： A two-and-half-year-old girl was admitted to our hospital due to recurrent seizures. At 6 months old, she was found to have developmental retardation accompanied with polydipsia and polyuria. At 2 years and 2 months old, it developed to epileptic seizures with a frequency of 2 or 3 times a day. At the time of hospitalization, the neurological examination was normal.