Cases reported "Proteinuria"

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1/8. Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).

    Two Japanese patients, belonging to unrelated families, with idiopathic low-molecular-weight proteinuria (LMWP; Japanese Dent's disease) showed novel mutations of the gene encoding renal-specific chloride channel 5 (CLC-5). proteinuria was first noticed at the ages of 2 and 3 years in patients 1 and 2, respectively. During follow-up, marked increases in urinary ss(2)-microglobulin levels, hypercalciuria, and high levels of urinary excretion of growth hormone were observed in both patients. nephrocalcinosis was detected in patient 2. Renal biopsy specimens from both patients showed minimal alterations in glomeruli and tubulointerstitium, except for mild mesangial proliferation in patient 2. dna sequence analysis of the entire 2,238-bp coding region and exon-intron boundaries of the CLCN5 gene showed the presence of two novel mutations in exon 10, consisting of one missense mutation (I524K) in patient 1 and one nonsense mutation (R637X) in patient 2. dna analysis and measurement of urinary ss(2)-microglobulin levels in family members indicated an X-linked mode of inheritance in patient 1 and sporadic occurrence in patient 2. These results have expanded our understanding of the association between idiopathic LMWP (Japanese Dent's disease) and mutations of the CLCN5 gene.
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2/8. Idiopathic hypercalciuria preceding IgA nephritis in a child with recurrent hematuria.

    A 5-year-old boy was investigated after an episode of gross hematuria of non-glomerular origin and was found to have idiopathic hypercalciuria. Despite normalization of calciuria he had recurrent attacks of gross hematuria. Since SDS-PAGE analysis of urinary proteins indicated a glomerular origin of hematuria, a renal biopsy was performed and revealed IgA nephropathy. We believe that association of hypercalciuria and IgA nephropathy is by chance, since both are frequently found in children with hematuria. Also, we recommend all children with well-controlled hypercalciuria who experience further attacks of gross hematuria be evaluated for glomerular disease.
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3/8. hypercalciuria in osteogenesis imperfecta type I.

    BACKGROUND: In osteogenesis imperfecta severity of disease and reduced physical activity have been considered the main factors contributing to hypercalciuria; however, its pathogenesis in osteogenesis imperfecta Type I, in which mobility is normal, is still unclear. PATIENT, methods AND RESULTS: We describe a patient with osteogenesis imperfecta Type I and hypercalciuria, in whom measurement of calcium intake, plasma 1 - 25(OH) (2) vitamin d, fasting calciuria and tubular proteinuria led us to exclude an absorptive or renal component in the pathogenesis of hypercalciuria. CONCLUSIONS: We believe that hypercalciuria is determined by bone disease in osteogenesis imperfecta Type I. This condition should be added to the causes of normocalcemic hypercalciuria in children and the mildest forms should be differentiated from Idiopathic hypercalciuria.
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4/8. Examination of megalin in renal tubular epithelium from patients with dent disease.

    dent disease is characteristic for the urinary loss of low-molecular-weight proteins and calcium, leading to renal calcification and, in some patients, chronic renal failure. This disorder is caused by loss-of-function mutations in the renal chloride channel gene, CLCN5. The animal model of this disease has demonstrated the possible role of disturbed megalin expression, which is a member of the low-density lipoprotein receptor family and is associated with renal reabsorption of a variety of proteins, in dent disease. We examined the expression of megalin in the renal tubular epithelium of two unrelated patients with dent disease. One patient, whose CLCN5 gene was completely deleted, showed significantly decreased staining of megalin compared with controls, while there was no change in another patient with partial deletion of the gene. These results demonstrated that mutation of CLCN5 in some patients with dent disease may impair the expression of megalin, resulting in abnormal calcium metabolism, manifested as hypercalciuria and nephrocalcinosis.
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5/8. Familial progressive renal tubulopathy.

    We report herein data on 6 male patients with progressive tubulopathy. These patients belonged to two families: the propositus, his father, a paternal first cousin, two paternal uncles, and a maternal uncle. A 7-year-old proband had mild proteinuria (1 g/day), consisting of beta 2-microglobulin, alpha 1-microglobulin and lysozyme, and aminoaciduria. glycosuria and acidosis were absent. A 38-year-old father had mild proteinuria (2 g/day), including low-molecular-weight protein. hypokalemia, hypophosphatemia, glucosuria, phosphaturia, aminoaciduria, and reduced urinary concentrating ability were also present. The other 4 affected family members also had low-molecular-weight proteinuria, detected by screening for beta 2-microglobulin. In addition, there were several abnormalities; aminoaciduria in all 6, phosphaturia in 4 of 6, hypercalciuria in all 6 and glycosuria in 2 of 6 patients. Tubular dysfunction was more severe in the older subjects, hence, the disease seems to progress with age. Familial low-molecular-weight proteinuria is apparently a progressive disease linked to a X-linked or to an autosomal dominant inheritance.
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6/8. Tubular proteinuria in children without other defects of renal function.

    3 patients are described in whom proteinuria was detected on routine urine analysis and subsequently shown to be predominantly tubular in origin. Renal biopsies showed only minor changes. hypercalciuria was also noted in 1 of the 3 patients but no other tubular abnormalities were demonstrated. The precise diagnosis remains uncertain, but an unusual presentation of idiopathic hypercalciuria or of the adult fanconi syndrome must be considered. These patients may alternatively have a previously undescribed disorder.
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7/8. Hypercalciuric rickets: a rare cause of nephrolithiasis.

    An unusual case of rickets associated with hypercalciuria is described. In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal glucosuria and impaired renal concentration but no renal tubular acidosis. Studies did not support the diagnosis of primary hyperparathyroidism. The findings in the patient were very similar to those in 4 previously reported cases and are suggestive of a new combination of multiple renal tubular defects.
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8/8. Dent's disease--the hypercalciuric variant of Fanconi's syndrome.

    Dent's disease is a rare type of proximal renal tubular defect characterized by hypercalciuria, low-molecular-weight (LMW) proteinuria, nephrocalcinosis and slowly progressive renal failure, short stature and osteopenia in children with clinical symptoms of rickets. This "hypercalciuric rickets" was originally described by Charles Dent and Max Friedman in 1964 [1]. The disease is probably linked to the x chromosome so that males are much more severely affected than females.
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