Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

ClC-5 is a chloride channel whose gene mutations have been reported to be associated with X-linked nephrolithiasis (XRN), X-linked recessive hypophosphatemic rickets (XLRH), Dent disease, and idiopathic low-molecular-weight proteinuria (ILMWP) in Japanese children. To establish more efficient screening for CLCN5 abnormalities, we developed a new diagnostic method using reverse transcription and polymerase chain reaction (RT-PCR) of cultured renal tubular cells from the urine of patients. Using this new method, we successfully detected microdeletion of ClC-5 mRNA in a patient and splicing abnormality of the CLCN5 Cl channel.
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PMID:A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy. 1126 75

Ten patients of nephropathic cystinosis were admitted during the period 1995-2000. Their mean age was 12 months. The signs of failure to thrive and advanced rickets were seen in all patients. Other features included polyuria, polydipsia, pathologic fractures and deafness. Laboratory findings included glucosuria, hyposthenuria, hypocalcemia, proteinuria and azotemia. Therapy with phosphocysteamine showed marked clinical improvement.
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PMID:Infantile cystinosis. 1255 13

A 5-year-old girl presented with short stature. She was found to have rickets due to renal phosphate wasting and nephrocalcinosis. Serum parathyroid hormone was suppressed, 25-OH vitamin D was within the normal range, and 1,25-(OH)(2 )vitamin D was elevated. In addition, she had hypercalciuria, proteinuria, which was partially tubular in origin, and a reduced glomerular filtration rate of 58 ml/min per 1.73 m(2). Treatment with phosphate supplements resulted in healing of the rickets and normalization of the serum 1,25-(OH)(2 )vitamin D level. This patient is an example of hypercalciuric rickets, most likely due to an inherited disorder of phosphate metabolism. Hypercalciuric rickets can be inherited as an autosomal recessive as well as autosomal dominant trait.
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PMID:A girl with rickets and nephrocalcinosis. 1464 29

Mutations in the CLCN5 gene have been detected in Dent's disease and its phenotypic variants (X-linked recessive nephrolithiasis, X-linked recessive hypophosphatemic rickets, and idiopathic low-molecular-weight proteinuria of Japanese children). Dent's disease is a tubular disorder characterized by low-molecular-weight proteinuria, and nephrolithiasis associated with nephrocalcinosis and hypercalciuria. ClC-5 is the first chloride channel for which a definitive role in the trafficking and acidification-dependent recycling of apical membrane proteins has been established. In the course of CLCN5 SSCP analysis in patients with hypercalciuric nephrolithiasis, we detected a novel mutation at intron 2 of the CLCN5 gene, a T-to-G substitution, located 17 bp upstream of the AG acceptor site. To determine the effect of IVS2-17 T>G mutation on the correct splicing of intron 2, we studied ClC-5 transcripts in a patient's peripheral blood leukocytes by means of quantitative comparative RT/PCR, and found a new ClC-5 5' UTR isoform characterized by the untranslated exon 1b and by retention of intron 1b. This new isoform--isoform B1--was not correlated with mutation since it was detected also in control leukocytes and in renal tissues of kidney donors, thus confirming its physiological role. By RACE analysis we determined the putative transcriptional start site which is located at intron 1a, 251 nt upstream of the first nucleotide of the untranslated exon 1b. ORF analysis revealed that intron 1b retention in isoform B1 stabilizes the initiation of translation to the AGT at position 297 of the ClC-5 cDNA coding region.
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PMID:Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes. 1467 7

Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the disease often difficult. Given the variably clinical picture, genetic analysis can provide a reliable method to confirm the diagnosis. Here, we report on the case of a patient with progressive renal failure showing signs of a tubular lesion and symptoms of Dent's disease. Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene.
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PMID:Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5. 1557 Nov 86

Dent's disease is a hereditary renal tubular disorder caused by mutations of the CLCN5 gene and is clinically characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. This disease has been reported in several countries. However, there are some phenotypic differences between countries, such as hypophosphatemic rickets, progressive renal failure and hematuria. In this study, phenotypes were analyzed in three Korean boys with Dent's disease, and genetic diagnoses were performed using a new convenient method using peripheral blood RNA. Gene studies revealed two nonsense mutations, R637X in two patients and E609X in one patient. The phenotypes of the two patients with R637X were very similar to those of Japanese patients, i.e., they presented with asymptomatic proteinuria without rickets, renal failure or hematuria. The E609X patient was diagnosed genetically at 3 months of age before the onset of clinical symptoms because of superimposed furosemide-induced nephrolithiasis. This is the first report to characterize mutations in the CLCN5 gene in Korean patients with Dent's disease, and expands the spectrum of CLCN5 mutations by reporting a novel mutation, E609X. In addition, the mutational analysis using peripheral blood RNA can be easily applied in the clinical diagnosis.
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PMID:Phenotype and genotype of Dent's disease in three Korean boys. 1571 55

The rare Dent's disease manifests with medullary nephrocalcinosis, nephrolithiasis, hypercalciuria, low molecular weight proteinuria and other tubular dysfunctions, rickets or osteomalacia, and renal failure, in various combinations. It is a recessive X-linked condition. Clinicians consider family history a fundamental pointer to its diagnosis, but this is not invariably the case as clearly pointed out by the two reported cases.
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PMID:Family history may be misleading in the diagnosis of Dent's disease. 1641 11

A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered. Bone marrow smear examination was normal, despite the existence of suspicious crystals in the cornea. Cystine crystals were seen in the conjunctiva biopsy and increased leukocyte cystine level was measured; therefore, definitive cystinosis diagnosis was made. Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-tubular transport defect is present, patients could have Bartter syndrome findings such as hypochloremic metabolic alkalosis. Our case is a good example demonstrating that metabolic alkalosis should not exclude cystinosis and the other signs and symptoms of the patient should be thoroughly evaluated.
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PMID:A patient with cystinosis presenting transient features of Bartter syndrome. 1717 73

Following a previous note dealing with rickets, intestinal malabsorption, virus hepatitis and mongolism, the present paper deals with serum immunoglobulin behaviour in thymomegaly, nephrosis and response to TAB vaccination. Thymomegaly was accompanied by increases in all three Ig classes, followed by normalisation of values shortly after steroid treatment. in nephrotic proteinuria, determination of glomerular selectivity via the evaluation of IgG and transferrin clearance was of assistance with respect to prognosis and therapy. Artificial antigen stimulation of healthy and mongoloid subjects with TAB vaccine was not followed by differences in Ig class behaviour; similar stimulation of full-term and immature neonates, however, showed a rapid and frank increase in immature IgM values with respect to the non-stimulated immature subject of equal age and weight.
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PMID:[Serum immunoglobulin patterns in some diseases of infancy]. 1734 5

The Acadians were French settlers to Nova Scotia in the seventeenth century. In 1755, they were expelled by the British to various sites in the Americas, including Louisiana, where they are referred to as Cajuns. Many later migrated back to the Maritime Provinces of Canada. The objective of this study was to describe a series of pediatric patients representing an Acadian variant of Fanconi syndrome (AVFS). Nineteen children were diagnosed with AVFS between 1971 and 2006 and followed regularly. Data concerning demographics, growth, bone disease, and renal function at presentation and last observation were collected. The commonest reason for referral was assessment of genu valgum at 8.5 +/- 4.2 years (mean +/- SD) with hypophosphatemic rickets confirmed in all patients. Small-body habitus and short stature were confirmed in all patients. Therapy consisting of alkali replacement and phosphate and vitamin D supplements resulted in improvement of rickets and leg alignment but not stature (median height Z-score at presentation -2.05, range -3.6 to 0.21, vs. -2.05 at last observation, range -3.36 to 0.47). Creatinine clearance decreased (65.4 +/- 24.6 vs. 48.0 +/- 36.0 ml/min per 1.73 m(2), P < 0.05) and proteinuria increased (0.38 +/- 0.25 vs. 1.46 +/- 1.52 g/d, P < 0.05) during follow up of 8.4 +/- 6.1 years. Chronic kidney disease developed in 50% by age 13 years. No extrarenal manifestations were identified, although two patients developed lethal pulmonary fibrosis postrenal transplantation. AVFS is characterized by rickets responsive to solute therapy, short stature, and loss of renal function, with progressive proteinuria with age.
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PMID:An Acadian variant of Fanconi syndrome. 1769 Sep 17


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