Nephrocalcinosis in newborn

Nephrocalcinosis is uncommon in childhood, and almost always develops outside the newborn period. Over the last decade, nephrocalcinosis due to multifactorial pathogenesis has increased in very low birth-weight infants. In this report a 23 day old full-term baby with nephrocalcinosis secondary to distal renal tubular acidosis is described.     

Renal Tubular Acidosis in a Case of Shwachman's Syndrome

ABSTRACT. We describe metabolic acidosis in a 15-month-old girl with clinical features of Shwachman's syndrome. Renal function tests indicated that the patient had type 1 renal tubular acidosis. Based on our findings and other reports of renal tubular dysfunction in patients with Shwachman's syndrome, we conclude that it is important to look for a possible renal tubular defect in this syndrome.     

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.     

Type 4 Renal Tubular Acidosis (Sub-type 2) Associated with Idiopathic Interistitial Nephritis

ABSTRACT. An 18-month-old girl presenting with anorexia and failure to thrive, was referred for adenoidectomy. Arterial hypertension was discovered on physical examination. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis, with slight azotemia. Urinary aldosterone excretion and plasma renin were decreased. Renal biopsy showed idiopathic interstitial nephritis. The diagnosis of type 4 renal tubular acidosis, sub-type 2, i.e. primary hyporeninaemic secondary hypoaldosteronism was proposed. According to our knowledge, this disease has not previously been reported in young children, but is well known in azotaemic adults. We therefore propose the inclusion of this uncommon renal disease in the differential diagnosis of failure to thrive in childhood.     

以肾小管酸中毒为首发表现的儿童恶性淋巴瘤

原发性肾淋巴瘤是原发于淋巴结以外的一种恶性淋巴瘤,罕见于儿童。该文报道2例以肾小管酸中毒为首发表现,以肾组织穿刺病理确诊的儿童原发性肾淋巴瘤。2例皆以“多饮、多尿、乏力、呕吐、贫血”为主要症状,双肾肿大,伴低钾、低钙、低磷,代谢性酸中毒等。1例放弃治疗,另外1例经泼尼松、长春新碱、阿糖胞苷＋L-天冬氨酰胺酶(PVA+L-ASP)方案化疗,联合氨甲喋呤、地塞米松、阿糖胞苷鞘内注射、纠酸、补钾、输血及对症支持治疗后,多饮多尿症状缓解,内环境稳定, 复查肾B超无异常发现。一旦怀疑该型恶性淋巴瘤,应尽快肾组织穿刺病理确诊,早期采取综合治疗,包括手术、化疗与放疗、支持疗法等。     

RENAL TUBULAR ACIDOSIS ASSOCIATED WITH TYPE III GLYCOGENOSIS

ABSTRACT. Cohen, J. and Friedman, M. (Department of Paediatrics, Whittington Hospital, London, England). Renal tubular acidosis associated with type III glycogenosis. Acta Paediatr Scand, 68: 779, 1979.—Two children who presented with severe failure to thrive were found to have Type III glycogen storage disease. They both also had defects of tubular acidification, an association not previously described. The nature of the tubular lesion is characterized and the explanation and therapeutic implications are discussed.     

PROXIMAL RENAL TUBULAR ACIDOSIS IN TETRALOGY OF FALLOT

ABSTRACT: Rodriguez-Soriano, J., Vallo, A., Chouza, M. and Castillo, G. (Department of Paediatrics, Hospital Infantil de la Seguridad Social, Bilbao, Spain). Proximal renal tubular acidosis in tetralogy of Fallot. Acta Paediatr Scand, 64:671, 1975.–A 9-year-old girl presented with tetralogy of Fallot and moderate metabolic acidosis. Despite a Blalock's fistula there was evidence of chronic hypoxia with cyanosis, clubbing of fingers and toes and very elevated blood hematocrit values. Renal acidification and bicarbonate titration demonstrated the existence of proximal renal tubular acidosis: renal bicarbonate threshold was low (18 mmoles/1) and normal urinary acidification was present at subthreshold serum bicarbonate levels. Following corrective heart surgery, blood acid-base values and renal reabsorption of bicarbonate became normal. A causal relationship between extracellular fluid volume expansion dependent on the high hematocrit and proximal renal tubular acidosis is suggested.     

Proximal Renal Tubular Acidosis in a Child with Type 1 Glycogen Storage Disease

ABSTRACT. A 6 1/2-year-old Japanese girl with type 1 glycogen storage disease developed a profound metabolic acidosis refractory to bicarbonate renal tubular acidosis and hyperphosphaturia. There was no evidence of distal tubular dysfunction.     

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??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.     

Suboptimal Mineral Composition of Cow's Milk Formulas: A Risk Factor for the Development of Late Metabolic Acidosis

ABSTRACT. Late metabolic acidosis was observed in a term baby boy with renal tubular acidosis type 4 who received two cow's milk formulas in succession. Suboptimal mineral composition of the formulas turned out to be an important risk factor for the development of late metabolic acidosis.     

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     

PROXIMAL RENAL TUBULAR ACIDOSIS IN VITAMIN D DEFICIENCY RICKETS

An 8-month-old girl presented with classical vitamin D deficiency rickets, secondary hyper-parathyroidism and hyperchloraemic acidosis. Renal acidification and bicarbonate titration studies showed the patient to have a proximal renal tubular acidosis. Rickets, secondary hy-perparathyroidism and proximal tubular acidosis were corrected by administration of calcium and vitamin D. A causal relationship between hyperparathyroidism and renal proximal tubular acidosis is suggested.     

Renal tubular acidosis — a case report

A case of primary distal type of renal tubular acidosis (RTA) diagnosed at the age of 14 days in a neonatal nursery is reported. The course of illness and management upto the age of four years is described.     

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.     

Renal tubular dysfunction in methylmalonic acidaemia

Renal tubular function was assessed in seven patients with methylmalonic acidaemia not responsive to vitamin B₁₂. Five patients failed to concentrate their urine normally and in these patients the glomerular filtration rate was also reduced. Fractional excretion of sodium was increased in four patients, fractional excretion of potassium in one patient and in three there was a decreased tubular reabsorption of phosphate. Although possibly representing primary tubular damage these findings were thought to be consistent with adaptive changes secondary to the reduced glomerular filtration rate. Two patients had evidence of a defect of urinary acidification and several had a degree of hyporeninaemic hypoaldosteronism suggesting type 4 renal tubular acidosis. In one patient with a mild variant no renal disease was detected. Decreased renal function and tubular abnormalities were common in patients with methylmalonic acidaemia. It is likely that they are linked and essentially secondary to the tubulo-interstitial nephritis that is histologically demonstrable on renal biopsy. The failure of urinary concentrating ability and the disturbed urine acidification will contribute to the metabolic derangement during episodes of decompensation.