肾小管性酸中毒骨病的误诊分析及其治疗

本文回顾性分析１１例肾小管性酸中毒骨病的误诊原因，提出筛查婴儿难治性佝偻病的和生。随防比较不同剂量碱剂对３例肾小管性酸中毒和身高的影响，表明大剂量碱剂治疗肾小管性酸中毒较小剂量为佳。     

小儿远端肾小管酸中毒10例分析

肾小管酸中毒(RTA)临床通常分4型。其中以远端肾小管酸中毒(dRTA)多见。RTA临床表现复杂多样,容易导致误诊或漏诊。为提高对本病的认识,现将我科1991年～1995年6月间收治的10例dRTA分析如下。     

以惊厥为首发症状的肾小管性酸中毒1例

患儿 ,女 ,2个月。因抽搐 4ｄ入院。入院前 4ｄ出现阵发性抽搐 ,每次发作数秒自行缓解 ,后发作频繁入院 ,无其他不适。查体 :体温 36℃ ,脉搏 1 1 0次 /ｍｉｎ ,呼吸 2 8次 /ｍｉｎ ,体重 5ｋｇ。发育欠佳 ,营养中等 ,神清。前囟 2ｃｍ× 2ｃｍ ,平软 ,枕秃明显。心肺腹部无异常。查血Ｋ+ 4 .4ｍｍｏｌ/Ｌ ,血Ｎａ+ 1 2 8ｍｍｏｌ/Ｌ ,血Ｃｌ- 96 .2ｍｍｏｌ/Ｌ ,血Ｃａ2 + 1 .75ｍｍｏｌ/Ｌ。以低钙惊厥收入院。经止痉、补钙、补钠、维生素Ｄ等治疗 ,效差 ,后多次查血Ｋ+ ≥ 5 .5ｍｍｏｌ/Ｌ (最高时达 6 .5ｍｍｏｌ/Ｌ) ,血Ｎａ+ 1 4 1ｍ…     

远端肾小管性酸中毒与肾钙化8例

远端肾小管性酸中毒与肾钙化８例广西医科大学第一附院儿科（５３００２７）梁瑾，黄丽莉，林善修广西壮族自治区人民医院儿科杜华，尹瑛本文通过腹部平片及肾脏Ｂ超征实有肾钙化或并肾结石的远端肾小管性酸中毒８例，现报告如下。临床资料一、一般资料男６例，女３例。起...     

表现为循环衰竭的小儿肾小管酸中毒1例

患儿，男，2个月。因而色苍白、呼吸深长1个月，加重两天入院。无呕吐、胸污及发热，未抽搐。足月间产，出生体重3kg。查体:体温374”C，血压8／抡ri，作重atg。反应美，呼吸深长，伴双吸气，面色苍白，DR红;双肺呼吸音清;心音有力，心率18O欢呼，肝脾未触及，四肢凉、肌张力低     

儿童肾小管性酸中毒Ⅳ型5例报告及文献复习

目的 探讨儿童肾小管件酸中毒(RTA)Ⅳ型各亚型的病理生理、临床特点及鉴别诊断.方法 5例确诊IV型RTA患儿,通过其临床表现、实验室检查结果进行诊断分型,并结合文献资料进行分析.结果 Ⅳ型RTA包括电压依赖型和醛固酮不足/抵抗型,后者又包括5个亚型.电压依赖型者尿pH5.5,血钾升高,滤过钾排泄分数降低,血浆肾素-血管紧张素-醛固嗣水平正常;而醛固酮小足/抵抗症型血浆醛固酮水平可正常、增高或减低,但临床均表现为醛固酮功能不足.患儿多发病年龄小,有明显的电解质紊乱及代谢性酸中毒.结论 Ⅳ型RTA各亚型的诊断分型复杂,临床医师应提高警惕,给予息儿早期诊断及治疗.     

卡那霉素致继发性远端肾小管性酸中毒一例报告

肾小管性酸中毒是一类以肾小管酸化功能障碍为主的综合征。其特点是阴离子隙不增加或正常的高氯性代谢性酸中毒,尿PH值改变与酸中毒程度无相应关系,肾小球功能基本正常。Lightwood 氏于1955年首次报道本病,我国于1958年董氏报道以来,已逐渐受到重视。我科最近收治一例卡那霉素所致的继发性肾小管性酸中毒。复习文献,尚未发现有该药引起肾小管酸中毒的报告,     

Medullary sponge kidney associated with distal renal tubular acidosis in a 5-year-old girl

Introduction Medullary sponge kidney (MSK) is characterized by cystic dilatation of the inner medullary collecting ducts, which causes the kidneys to resemble a sponge.Case report Although distal renal tubular acidosis (dRTA) is commonly observed in patients with MSK, we report a 5-year-old girl with MSK who had features of both dRTA (nephrocalcinosis, hypercalciuria, hypocitraturia) and proximal tubular dysfunction (hyperuricosuria, impaired tubular phosphate reabsorption and proteinuria).Discussion Metabolic acidosis, hypercalciuria, hypocitraturia, tubular phosphate reabsorption and growth retardation in the patient improved with alkali therapy.     

Evaluation of renal tubular acidosis

Renal tubular acidoses (RTA) comprises of a group of disorders characterized by a low capacity for net acid excretion and persistent hyperchloremic, metabolic acidosis. The RTAs are classified into chiefly three types (types 1,2 and 4) based on clinical and laboratory characteristics. Correct diagnosis involves careful evaluation, including exclusion of other entities causing acidosis. A variety of tests are required to be administered in a stepwise fashion for the diagnosis and characterization of RTA.     

��ͯ�ͼ�����С�ܼ���38���ٴ�����

??Objective??To analyze the clinical features and the results of genetic diagnosis in children with hypokalemic renal tubular diseases. Methods??The clinical data of 38 patients with hypokalemic renal tubular diseases were analyzed retrospectively??who were treated in Children’s Hospital Affiliated to Shanghai Jiao Tong University from Jan. 2010 to Jan. 2016. Results??Totally 38 patients with hypokalemic renal tubular diseases were enrolled in this study. There were 18 cases of renal tubular acidosis??RTA?? including 17 cases of type??RTA and 1 case of type?? RTA. There were 11 cases of Bartter syndrome??5 cases of Gitelman syndrome and 4 cases of Fanconi syndrome. The common clinical manifestations of hypokalemic renal tubular diseases included myasthenia??nausea??vomiting??polydipsia??polyurine and growth retardation. One case of Fanconi syndrome progressed to chronic Kidney disease??phase ????while the other
children had normal renal function. Glomerular proteinuria was found in 1??1 and 3 children with Bartter syndrome??Gitelman syndrome and Fanconi syndrome??respectively. Additionally??1 case with Fanconi syndrome has tubular proteinuria. However??urinary trace proteins associated with glomerular and tubular injury commonly elevated in these hypokalemic renal tubular diseases. Genetic analysis showed a new potential heterozygous mutations of ATPV0A4 in type??RTA and three heterozygous mutations of SLC12A3 in Gitelman syndrome. Conclusion??The clinical symptoms vary in patients and are featured mainly by myasthenia??nausea??vomiting??polydipsia??polyurine and growth retardation. Glomerular and tubular injuries are commonly found in hypokalemic renal tubular diseases. Moreover??genetic diagnosis may be helpful in diagnosis??treatment and genetic counseling.     

Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia

A 10-month-old male infant with vitamin B₁₂ non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.     

Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis

A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild cataract and short stature. Severe metabolic acidosis was caused by the impairment of bicarbonate reabsorption in the proximal tubules and alkali therapy improved her acidaemia. A homozygous G to A transition at nucleotide 1,678 in the basolateral kidney type Na⁺/HCO₃ ⁻ (kNBC) co-transporter gene SLC4A4, which is critical in HCO₃ ⁻ resorption in renal proximal tubules, was identified. Her height and height velocity (HV) were very low (−4.0 SD and −4.4 SD, respectively) before alkali treatment, but both improved after initiating alkali therapy at the age of 2 years and 3 months. The patient's body height and HV were 131.5 cm (−2.7 SD) and 4.0 cm (−2.0 SD), respectively at the age of 12 years. Conclusion This case demonstrates that early administration of alkali therapy and sustained correction of acidosis, even if inadequate to correct the metabolic acidosis, can markedly improves growth in permanent isolated proximal renal tubular acidosis. Received: 3 April 2000 / Accepted: 5 July 2000     

Chronic active hepatitis with renal tubular acidosis presenting as hypokalemic periodic paralysis with respiratory failure

A child with chronic active hepatitis and renal tubular acidosis, presenting with periodic hypokalemic paralysis resulting in respiratory failure, is described.