Matches in SemOpenAlex for { <https://semopenalex.org/work/W1570693315> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W1570693315 endingPage "315" @default.
- W1570693315 startingPage "312" @default.
- W1570693315 abstract "INTRODUCTION. Dent disease is X-linked recessive proximal tubulopathy, due to mutations in the CLCN5 gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and progressive renal failure. CASE OUTLINE. A seven-year-old boy was referred after endocrinological examination where abdominal ultrasound showed nephrocalcinosis. There were anamnestic data neither of oedema, macrohaematuria, nor polyuria or hypertension. There were also no data of chronic renal failure in the family. We determined: proteinuria (1.8 g/day), elevated urinary excretion of Beta 2 microglobulin, microscopic haematuria, hypercalciuria (8-10 mg/kg/day), nephrocalcinosis, decreased tubular reabsorption phosphate (65%). Values of growth hormone, parathormone on thyroid hormone were normal. Except hypercalciuria, which was registered in the patient?s mother, all other analyses performed in family members were betwen reference values. Diagnosis was finalized by mutation analysis, which showed S244L substitution on CNCL5. Mutation carrier was mother with normal phenotype. CONCLUSION. Dent disease is rare X-linked nephrocalcinosis. Definitive diagnosis of this proximal tubulopathy which leads to progressive renal damage is not possible without evidence of gene mutation in renal chlorine channel." @default.
- W1570693315 created "2016-06-24" @default.
- W1570693315 creator A5039838472 @default.
- W1570693315 creator A5050876580 @default.
- W1570693315 creator A5053595278 @default.
- W1570693315 creator A5077285685 @default.
- W1570693315 date "2008-01-01" @default.
- W1570693315 modified "2023-09-23" @default.
- W1570693315 title "Dent disease" @default.
- W1570693315 doi "https://doi.org/10.2298/sarh08s4312p" @default.
- W1570693315 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20804101" @default.
- W1570693315 hasPublicationYear "2008" @default.
- W1570693315 type Work @default.
- W1570693315 sameAs 1570693315 @default.
- W1570693315 citedByCount "0" @default.
- W1570693315 crossrefType "journal-article" @default.
- W1570693315 hasAuthorship W1570693315A5039838472 @default.
- W1570693315 hasAuthorship W1570693315A5050876580 @default.
- W1570693315 hasAuthorship W1570693315A5053595278 @default.
- W1570693315 hasAuthorship W1570693315A5077285685 @default.
- W1570693315 hasBestOaLocation W15706933151 @default.
- W1570693315 hasConcept C126322002 @default.
- W1570693315 hasConcept C126894567 @default.
- W1570693315 hasConcept C134018914 @default.
- W1570693315 hasConcept C2776356786 @default.
- W1570693315 hasConcept C2777724520 @default.
- W1570693315 hasConcept C2778653478 @default.
- W1570693315 hasConcept C2779561371 @default.
- W1570693315 hasConcept C2780091579 @default.
- W1570693315 hasConcept C2780180277 @default.
- W1570693315 hasConcept C2781145721 @default.
- W1570693315 hasConcept C555293320 @default.
- W1570693315 hasConcept C71924100 @default.
- W1570693315 hasConcept C77411442 @default.
- W1570693315 hasConcept C90924648 @default.
- W1570693315 hasConceptScore W1570693315C126322002 @default.
- W1570693315 hasConceptScore W1570693315C126894567 @default.
- W1570693315 hasConceptScore W1570693315C134018914 @default.
- W1570693315 hasConceptScore W1570693315C2776356786 @default.
- W1570693315 hasConceptScore W1570693315C2777724520 @default.
- W1570693315 hasConceptScore W1570693315C2778653478 @default.
- W1570693315 hasConceptScore W1570693315C2779561371 @default.
- W1570693315 hasConceptScore W1570693315C2780091579 @default.
- W1570693315 hasConceptScore W1570693315C2780180277 @default.
- W1570693315 hasConceptScore W1570693315C2781145721 @default.
- W1570693315 hasConceptScore W1570693315C555293320 @default.
- W1570693315 hasConceptScore W1570693315C71924100 @default.
- W1570693315 hasConceptScore W1570693315C77411442 @default.
- W1570693315 hasConceptScore W1570693315C90924648 @default.
- W1570693315 hasIssue "Suppl. 4" @default.
- W1570693315 hasLocation W15706933151 @default.
- W1570693315 hasLocation W15706933152 @default.
- W1570693315 hasOpenAccess W1570693315 @default.
- W1570693315 hasPrimaryLocation W15706933151 @default.
- W1570693315 hasRelatedWork W1570693315 @default.
- W1570693315 hasRelatedWork W1976468637 @default.
- W1570693315 hasRelatedWork W2145710403 @default.
- W1570693315 hasRelatedWork W2335395597 @default.
- W1570693315 hasRelatedWork W2588194647 @default.
- W1570693315 hasRelatedWork W2887604079 @default.
- W1570693315 hasRelatedWork W291516604 @default.
- W1570693315 hasRelatedWork W2956153685 @default.
- W1570693315 hasRelatedWork W3011627424 @default.
- W1570693315 hasRelatedWork W3096226982 @default.
- W1570693315 hasVolume "136" @default.
- W1570693315 isParatext "false" @default.
- W1570693315 isRetracted "false" @default.
- W1570693315 magId "1570693315" @default.
- W1570693315 workType "article" @default.