Cases reported "Acidosis, Renal Tubular"

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1/17. Atypical distal renal tubular acidosis confirmed by mutation analysis.

    In autosomal dominant distal renal tubular acidosis type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic hypokalemia, hypercalciuria, nephrocalcinosis, and/or nephrolithiasis. A retardation of growth is commonly observed. In this report we present a family with autosomal dominant dRTA with an atypical and discordant clinical picture. The father presented with severe nephrocalcinosis, nephrolithiasis, and isosthenuria but metabolic acidosis was absent. His 6-year-old daughter, however, suffered from metabolic acidosis, hypokalemia, and hypercalciuria. In addition, sonography revealed multiple bilateral renal cysts but no nephrocalcinosis. Mutation analysis of the AE1 gene coding for the renal Cl-/HCO3(-)-exchanger AE1 displayed a heterozygous Arg589Cys exchange in both patients but not in the healthy family members. This point mutation is frequently associated with autosomal dominant dRTA. Diagnosis of autosomal dominant dRTA is supported in this family by results of AE1 mutation analysis.
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keywords = hypercalciuria
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2/17. Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria.

    We report the case of a 5-year-old boy with mitochondrial cytopathy due to a partial deficiency of cytochrome c oxidase who had isolated proximal renal tubular acidosis and hypercalciuria. The patient developed hypotonia and blepharoptosis and exhibited growth retardation. Biochemical examination of muscle tissue revealed a partial deficiency of cytochrome c oxidase. He was treated with an alkali, hydrochlorothiazide, and indomethacin. After treatment, metabolic acidosis and hypercalciuria improved, and the patient had a catch-up growth phase. This case emphasizes the importance of performing renal tubular functional investigations and treatment in patients with mitochondrial cytopathy, even in the absence of multiple proximal tubular dysfunction.
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keywords = hypercalciuria
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3/17. Rare presentation of Wilson's disease: a case report.

    A female presented with pain in left flank, detected to have bilateral renal calculi with deranged liver functions. On investigation found her to have Wilson's disease with hypercalciuria and incomplete distal renal tubular acidosis. Patient was started on penicillamine following which her hepatitis improved but hypercalciuria persisted after 10 weeks of follow up. The rarity of such presentation and literature review for the same is discussed.
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4/17. Proximal renal tubular dysfunction in primary distal renal tubular acidosis.

    Low-molecular-weight (LMW) proteinuria has been described in patients with primary distal renal tubular acidosis (dRTA). However, other proximal renal tubular dysfunctions have rarely been reported. In this report we describe reversible and multiple proximal renal tubular cell dysfunctions in a patient with dRTA. A 4-year-old girl was admitted to our hospital for investigation of short stature and proteinuria. Laboratory studies revealed a hyperchloremic metabolic acidosis without aciduria, hypokalemia, hypouricemia with uricosuria, hypercalciuria, LMW proteinuria, phosphaturia, and generalized aminoaciduria. The patient was diagnosed as having dRTA with multiple proximal renal tubular dysfunctions. All proximal renal tubular dysfunction subsided 1.5 years after starting alkali therapy. The precise pathogenic mechanisms underlying the development of multiple proximal renal tubular dysfunctions in dRTA remained unclear. However, proximal renal tubular endosomal dysfunction resulting from a profound intracellular acidosis caused by vacuolar H -ATPase dysfunction or hypokalemic nephropathy might contribute to the development of proximal renal tubular dysfunctions in patients with dRTA.
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keywords = hypercalciuria
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5/17. 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.
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6/17. Occasional urinary tract infections and urinary depletion effect mask RTA and carbonate-apatite formation in a strong urinary stone former.

    We report on a female patient with severe bilateral urolithiasis. A once-off stone analysis performed in the past revealed Mg-phosphate. Occasional UTIs were considered to be the sole cause of stone formation. To date, this assumption had not been checked thoroughly, while stone formation in the patient steadily increased. An inpatient metabolic and analytical work up was performed and stone-growth related urinary alteration was taken into account in urinalysis interpretation. No UTI. NH4Cl-loading test indicated RTA. CT revealed calculi in both kidneys. Carbonate-apatite (CAP) dominates stone composition. Computed urinary composition proximal to stones indicates hypercalciuria. In this patient, occasional UTIs (pH) masked the causes of urolithiasis. Lack of updated stone analysis (CAP), metabolic work up (RTA) and improved urinalysis interpretation (hypercalciuria) concealed the true causes of stone formation.
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ranking = 1
keywords = hypercalciuria
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7/17. Self-limited neonatal familial hyperparathyroidism associated with hypercalciuria and renal tubular acidosis in three siblings.

    Three siblings with neonatal familial hyperparathyroidism diagnosed at age 4 months, 2 months, and 5 days, respectively, were treated. hypercalciuria, nephrocalcinosis, and renal tubular acidosis were present in each child. In all three, there were higher responses of serum parathyroid hormone to serum calcium and higher elevation of serum calcium with oral calcium loading. The metabolism of vitamin d and calcitonin seemed to be intact. hypercalcemia associated with the abnormal response of parathyroid hormone secretion disappeared when the children passed the age of approximately 2 years, although renal tubular acidosis and nephrocalcinosis remained. An autosomal recessive inheritance seems likely.
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keywords = hypercalciuria
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8/17. Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis.

    nephrocalcinosis was observed in 3 children of one family with distal renal tubular acidosis (dRTA). At presentation, all 3 patients had failure to thrive, rickets, hyperchloremic metabolic acidosis, hypokalemia, hypophosphatemia and hypercalciuria. At a later age, sensorineural hearing impairment was detected. nephrocalcinosis was diagnosed in the index case at the age of 5 years, when a plain abdominal roentgenogram was first made; in the younger brother and sister, nephrocalcinosis was detected earlier at the age of 4 months and 5 weeks, respectively. All 3 patients required large doses of alkali (7.5-9.5 mEq/kg body weight/day) during infancy and early childhood to correct the acidosis and to prevent progression of the nephrocalcinosis. Contrary to the current notion that in children with dRTA, nephrocalcinosis is observed only after the age of 3 years, it appears that in some instances nephrocalcinosis may develop in early infancy. The occurrence of nephrocalcinosis at a very young age may be a manifestation of a severe genetically transmitted variant of dRTA and emphasizes the need for early diagnosis and optimal treatment of these patients from the first days of life.
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keywords = hypercalciuria
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9/17. A case of active acromegaly with reduced height and type 1 renal tubular acidosis.

    A 41-year-old man with acromegaly was suffering from chronic, progressive backache and aware of reduction in his body height. Endocrine studies revealed increased glucose non-suppressible serum growth hormone (GH) and serum prolactin (PRL). Pituitary microadenoma was detected by a computerized axial tomogram and subsequently resected by trans-sphenoidal adenomectomy. The tumor proved to be a mixed GH- and PRL-secreting adenoma by electron microscopy and immunoperoxidase staining. Concurrent investigation of backache and reduced height disclosed markedly reduced radiodensity of the spinal bones, bilateral nephrocalcinosis, and hypercalciuria, which were ascribed to renal tubular acidosis (RTA) demonstrated by reduced urinary excretion of acids and insufficient reduction of urinary pH following oral administration of ammonium chloride. From the analogy to certain endocrinopathies, it appears likely that enhanced calcium metabolism and resultant hypercalciuria due to excess GH and PRL have led to the development of RTA, which further enhanced calciuria. Such enhanced calcium metabolism and consequent hypercalicuria conceivably led to accelerated demineralization of the spine and resulted in the reduced height of this patient in his early forties.
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ranking = 1
keywords = hypercalciuria
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10/17. 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.
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keywords = hypercalciuria
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