A case of nephrocalcinosis due to Sj?gren syndrome associated with renal tubular acidosis

A 39-year-old women was admitted to the hospital because of fever, lumbago and recurrent history of spontaneous stone discharge. An abdominal X-ray film demonstrated multiple calculi in the medullary positions of both kidneys and right multiple ureteral stones. Laboratory examinations showed hypergammaglobulinemia and the urine pH level was fixed around 7; nevertheless general metabolic acidosis existed. These laboratory data indicated nephrocalcinosis due to Sj?gren syndrome associated with renal tubular acidosis. Right multiple ureteral stones were removed by transurethral ureteroscopy. After starting alkali therapy, neither increased nor recurrent stone formation was recognized.     

A case of incomplete distal renal tubular acidosis undergoing repeated treatment by extracorporeal shock-wave lithotripay and transureteral lithotripsy for recurrent urolithiasis

A 65-year-old woman was referred to our hospital for further examination of recurrent urinary stone formation. She had undergone 49 sessions of extracorporeal shock-wave lithotripay (ESWL) and 3 sessions of transureteral lithotripsy (TUL) under the diagnosis of idiopathic recurrent urolithiasis at another hospital. An excretory urography showed bilateral hydronephrosis and a retrograde urography revealed bilateral lower ureteral stricture. Ammonium chloride loading test demonstrated incomplete distal renal tubular acidosis. Potassium citrate therapy had begun and bilateral nephrostomies were required in order to prevent recurrent urinary tract infection and new stone formation. Literature was reviewed and discussion was made on the ureteral stricture after ESWL and TUL, and on incomplete distal renal tubular acidosis.     

Hypocitraturic and hypercalciuric renal tubular acidosis with nephrocalcinosis in a 4-year-old boy

A 4-year-old boy suffering from hypocitraturic and hypercalciuric renal tubular acidosis with nephrolithiasis and nephrocalcinosis is reported. Renal function tests indicated that the patient had type 1 renal tubular acidosis. Potassium citrate rather than potassium bicarbonate, sodium citrate or bicarbonate is the preferred treatment for stones in RTA-I.     

Nephrocalcinosis due to renal tubular acidosis in two brothers

A 25-year-old man was admitted to our hospital because of left lumbago. An abdominal X-ray film demonstrated multiple calculi in the medullary positions of both kidneys and an impacted calculus in the left ureter. He was diagnosed with bilateral nephrocalcinosis and nerve deafness due to distal renal tubular acidosis (RTA) in childhood and was treated with alkali agents for several years. Extracorporeal shock wave lithotripsy was performed successfully against the left ureteral calculus. His older brother had also been diagnosed with RTA and nephrocalcinosis at the age of 2 years and 6 months. Nephrocalcinosis due to RTA associated with nerve deafness in brothers is rarely reported.     

Long-term follow-up in distal renal tubular acidosis with sensorineural deafness

A 20-year-old man presented with failure to thrive and bilateral genu valgum. On the basis of growth failure, skeletal deformity, hyperchloremic metabolic acidosis with alkaline urine and hypokalemia, nephrocalcinosis, and hearing loss, a diagnosis of distal renal tubular acidosis (DRTA) with sensorineural deafness was made. The genu valgum was treated by corrective osteotomy. Skeletal deformity was corrected and impaired growth improved after sustained therapy of metabolic acidosis with alkali supplementation. During an 8-year follow-up period the patient’s glomerular filtration rate remained stable, the nephrocalcinosis did not progress, and his height increased 10 cm. Although nephrolithiasis led to atrophy of the right kidney, at last follow-up, when the patient was 44 years old, his creatinine clearance was 50 ml/min per 1.73 m² body surface. Received: 17 December 1999 / Revised: 26 April 2000 / Accepted: 2 May 2000     

Idiopathic infantile hypercalcemia and renal involvement

Idiopathic infantile hypercalcemia is recognized as a rare cause of infantile hypercalcemia. Its renal consequences include nephrocalcinosis with distal tubular dysfunction, nephrolithiasis, and finally renal failure. Herein we report the case of a two-month-old infant presenting with idiopathic infantile hypercalcemia complicated with distal renal tubular acidosis (RTA) and nephrocalcinosis. Despite correction of acidosis and dehydration, the persistant hypercalcemia could only be ameliorated with calcitonin treatment. Early diagnosis and appropriate treatment is life-saving in such cases.     

Multiple urinary lithiasis and nephrocalcinosis secondary to primary Sjögren syndrome

A 39 year old women with a primary Sj?gren syndrome (pSS) had bilateral and multiple nephrolithiasis and nephrocalcinosis due to distal renal tubular acidosis (dRTA), hypercalciuria and hypocitraturia. She had in serum positive antinuclear antibodies with mottled pattern 1/320, totals ENA, Anti-SSA/Ro 52, Anti-SSA/Ro 60 and Anti-SSB-La antibodies. Stones were removed with extracorporeal shock wave lithotripsy satisfactory and were composed of calcium phosphate and calcium oxalate. Metabolic abnormalities were resolved with potassium citrate and hydrochlorothiazide. At two years of follow-up, the patient hadn't stone recurrence and had normal 24-hour urinary levels of citrate and calcium.     

Prevention of recurrent calcium stone formation with potassium citrate therapy in patients with distal renal tubular acidosis

Distal renal tubular acidosis is a common cause of intractable calcium nephrolithiasis. We examined the effect of oral potassium citrate therapy in 9 patients with incomplete distal renal tubular acidosis diagnosed on the basis of an abnormal response to an oral ammonium chloride load. Patients were studied during a control phase and after 3 months of potassium citrate treatment (60 to 80 mEq. daily). Potassium citrate caused a significant increase in urinary pH and urinary citrate, and a decrease in urinary calcium. The urinary relative saturation ratio of calcium oxalate significantly decreased during treatment, while that of brushite did not change. Potassium citrate also was shown to inhibit new stone formation. During a mean treatment period of 34 months none of the 9 patients had new stones, although 39.3 plus or minus 79.7 (standard deviation) stones per patient formed during the 3 years preceding treatment. The results support the potential clinical advantage of potassium citrate therapy in patients with distal renal tubular acidosis and recurrent calcium nephrolithiasis.     

远端肾小管酸中毒致泌尿系结石的诊治(附20例报告)

目的：探讨远端肾小管酸中毒(dRTA)引起泌尿系结石患者的诊断和治疗方法。方法：回顾性分析20例dRTA引起泌尿系结石患者的临床资料。结果：结石均取出或排除，术后继续使用相应药物治疗，防止结石复发。结论：dRTA引起的泌尿系结石需要相应药物治疗，同时需取出或排除结石，解除梗阻，保护肾功能。     

Distal renal tubular acidosis and lymphocytic thyroiditis with spontaneously resolving hyperthyroidism. Report of 1 case without nephrocalcinosis

In a 33-year-old woman concurrence of a complete distal renal tubular acidosis (RTA) and lymphocytic thyroiditis with spontaneously resolving hyperthyroidism was observed. Until recently, the rare association of RTA and hyperthyroidism had been thought to be governed by nephrocalcinosis, via hypercalcemia and hypercalciuria. However, in this case, nephrocalcinosis was not present, but there were histological signs of renal interstitial mononuclear cell infiltration, and the RTA persisted despite the resolution of the hyperthyroidism. This observation supports the idea that immunological mechanisms may relate RTA and hyperthyroidism when the latter has an autoimmune origin.     

Screening renal stone formers for distal renal tubular acidosis

A group of 110 consecutive renal stone formers were screened for distal renal tubular acidosis (RTA) using morning fasting urinary pH (mfUpH) levels followed by a short ammonium chloride loading test in patients with levels above 6.0. In 14 patients (12.7%) a renal acidification defect was noted; 13 had incomplete and 1 had complete distal RTA. Distal RTA was found particularly in recurrent stone formers (17%), and especially in those with bilateral stone disease, where a distal renal tubular acidification defect was found in 50%. We have been unable to differentiate primary from secondary RTA in renal stone formers. Regardless of whether the acidification defect is primary or secondary to stone formation, however, all renal stone formers with distal RTA can expect to benefit from prophylactic alkaline therapy and it is recommended that the screening procedure, which is easy to use in daily clinical practice, is applied to all stone formers and not restricted to patients with recurrent stone disease.     

Complete distal renal tubular acidosis in systemic lupus: clinical and laboratory findings

We report two patients with systemic lupus erythematosus (SLE) who were found to have complete (acidotic) distal renal tubular acidosis (DRTA). One patient had nephrocalcinosis and renal magnesium wasting with tetany; the other patient had nephrolithiasis and nephrotic syndrome secondary to membranous glomerulopathy. Both patients had decreased urinary citrate excretion but neither had hypercalciuria. We discuss the association of DRTA with immunologic disorders and the possible role of hypocitraturia in promoting renal calcification in these patients. We suggest that patients with renal calcification be evaluated for DRTA, and that patients found to have DRTA be further evaluated for signs, symptoms, and laboratory evidence of immunologic disorders.     

Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease

A 36-year-old man was admitted to hospital due to right flank pain as a result of ureteral stones. He had been followed up for type 1 glycogen storage disease since the age of 11 years. He had four episodes of spontaneous stone birth during the previous 2 years, and each stone was composed mainly of calcium oxalate. Intravenous pyelography showed right hydronephrosis due to ureteral stones and bilateral multiple renal stones. We carried out transurethral ureterolithotripsy (TUL) on the right ureteral stones. The composition was a mixture of calcium oxalate and calcium phosphate. Laboratory evaluation demonstrated the association of distal renal tubular acidosis (RTA). These observations suggest that hypocitraturia and distal RTA are strongly correlated to recurrence of calcium nephrolithiasis. The patient's serum uric acid and urinary citrate excretion levels normalized after allopurinol and potassium citrate administration.     

Renal histology and immunopathology in distal renal tubular acidosis.

Renal biospy studies are reported from 10 patients with distal renal tubular acidosis (DRTA). On the biopsies from 6 patients who had associated immunological abnormalities immunofluorescent studies for immunoglobulins, complement, and fibrin were performed. Interstitial cellular infiltration and fibrosis were common findings in patients with and without immunological abnormalities, and were usually associated with nephrocalcinosis and/or recurrent urinary infection. No immune deposits were demonstrated in association with the renal tubules. This study shows that DRTA in immunologically abnormal patients is not caused by tubular deposition of antibody or immune complexes. The possibility of cell mediated immune damage is discussed.     

ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus

We present a female neonate with arthrogryposis, renal tubular abnormalities and cholestasis syndrome and complex renal structural and functional abnormalities that include medullary nephrocalcinosis, hydronephrosis, nephrogenic diabetes insipidus, Fanconi syndrome, proximal and distal hyperkalemic renal tubular acidosis, near-nephrotic range proteinuria, hypercalciuria and severe hypovitaminosis D.     

Combined treatment of medullary sponge kidney by EDTA potassium citrate and extracorporeal shock wave lithotripsy

A case of successful renal calculus dissolution by the combined treatment which consists of irrigation with ethylenediaminetetraacetic acid (EDTA), potassium citrate, and extracorporeal shock-wave lithotripsy (ESWL) is described here. Renal irrigation via nephrostomy, which was the main treatment, was attempted on a 34-year-old Japanese male who had bilateral nephrocalcinosis caused by type 1 renal tubular acidosis associated with an impacted calculus in the right ureter. Finally, most of the calculi have been dissolved within 1 year.     

Gentamicin-induced diffuse renal tubular dysfunction.

Sir, Aminoglycoside-induced renal tubular dysfunction could be dividedinto Fanconi-like syndrome (FS) and Bartter-like syndrome (BS)[1]. The risk factors and mechanisms of tubular dysfunctionare little known. Here, we report a case of gentamicin-inducedFS, BS and distal renal tubular acidosis (RTA) and propose thepossible involvement of mitochondria. Case. A 66-year-old Chinese male was admitted because ofpneumonia.     

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis

Primary distal renal tubular acidosis (dRTA) type I is a hereditary renal tubular disorder, which is characterized by impaired renal acid secretion resulting in metabolic acidosis. Clinical symptoms are nephrocalcinosis, nephrolithiasis, osteomalacia, and growth retardation. Biochemical alterations consist of hyperchloremic metabolic acidosis, hypokalemia with muscle weakness, hypercalciuria, and inappropriately raised urinary pH. Autosomal dominant and rare forms of recessive dRTA are known to be caused by mutations in the gene for the anion exchanger AE1. In order to identify a gene responsible for recessive dRTA, we performed a total genome scan with 303 polymorphic microsatellite markers in six consanguineous families with recessive dRTA from Turkey. In four of these there was an association with sensorineural deafness. The total genome scan yielded regions of homozygosity by descent in all six families on chromosomes 1, 2, and 10 as positional candidate region. In one of these regions the gene ATP6B1for the ss1 subunit of the vacuolar H(+)-ATPase is localized, which has recently been identified as causative for recessive dRTA with sensorineural deafness. Therefore, we conducted mutational analysis in 15 families and identified potential loss-of-function mutations in ATP6B1in 8. We thus confirmed that defects in this gene are responsible for recessive dRTA with sensorineural deafness.     

Alkali action on the urinary crystallization of calcium salts: contrasting responses to sodium citrate and potassium citrate

Alkali therapy is used commonly to prevent recurrent stone formation in patients with distal renal tubular acidosis. We compared the effects of potassium citrate to those of sodium citrate in 6 well defined cases of incomplete distal renal tubular acidosis. The patients were studied during a control phase, during potassium citrate treatment (80 mEq. per day) and during sodium citrate treatment (80 mEq. per day) chosen in random order. Potassium citrate caused a decrease in urinary calcium and a significant increase in urinary citrate that resulted in a significant decrease in the urinary saturation of calcium oxalate. It did not alter the saturation of brushite and sodium urate. However, while sodium citrate also was able to increase the urinary citrate level, there was no decrease in the urinary calcium (owing to the increased sodium load). Thus, the urinary saturation of calcium oxalate did not decrease as much as with potassium citrate and the saturation of brushite increased significantly. Moreover, the urinary saturation of sodium urate increased significantly owing to the enhanced sodium excretion. The results suggest that potassium citrate therapy may retard the crystallization of calcium oxalate and may not cause calcium phosphate crystallization. In contrast, sodium citrate may have no effect or it sometimes may accentuate the crystallization of calcium salts. Thus, our study supports the potential clinical advantage of potassium citrate therapy over sodium alkali treatment in patients with incomplete distal renal tubular acidosis and recurrent calcium nephrolithiasis.     

Report of a family with two different hereditary diseases leading to early nephrocalcinosis

The etiologies of early onset nephrocalcinosis in consanguineous families include five major inherited recessive disorders: primary hyperoxaluria (PH), familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), distal renal tubular acidosis (dRTA), hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and antenatal Bartter syndrome. In this paper, we describe two girls from consanguineous parents with early onset nephrocalcinosis. Based on both clinical and biochemical assessment in combination with molecular genetics, we have shown that the etiology of nephrocalcinosis is different in each girl: one had FHHNC and her sister had dRTA.