FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385159983> ?p ?o ?g. }

• W4385159983 endingPage "83" @default.
• W4385159983 startingPage "75" @default.
• W4385159983 abstract "Long-term inflammation and recurrent skin infection in recessive dystrophic epidermolysis bullosa (RDEB) are associated with the presence of immunoglobulin A (IgA)-containing immune complexes in the glomerulus. Only eight pediatric RDEB cases with IgA nephropathy (IgAN) have been documented in English-language literature. Most RDEB patients with IgAN progress to kidney failure within 5 years of diagnosis, indicating that these patients may require more intensive early treatment compared to those with primary IgAN. However, diagnosing IgAN in RDEB cases with severe cutaneous manifestations can be challenging. Herein, we report a rare case of nephropathy in an 11-year-old boy with severe RDEB and a frameshift mutation on the <i>COL7A1</i> gene, which may manifest as kidney disorders. He presented with persistent hematuria and progressing proteinuria. A presumptive IgAN diagnosis was based on clinical features and increased IgA serum levels, as kidney biopsy was refused by his parents. Nephrotic-range proteinuria persisted despite initial steroid and lisinopril treatment. Monthly intravenous cyclophosphamide (IV CPA; 500 mg/m²) led to proteinuria remission and preservation of kidney function for 2 years posttreatment. We conclude that <i>COL7A1</i> mutations may result in extracutaneous manifestations, including kidney disorders. The association between IgA-containing immune complex deposits in the glomerulus and recurrent skin infection in RDEB may indicate IgAN, particularly when kidney biopsy is infeasible due to severe skin manifestations. In our case, positive results with IV CPA suggest further investigation is needed to explore its potential role in non-rapidly progressing IgAN in children with RDEB." @default.
• W4385159983 created "2023-07-24" @default.
• W4385159983 creator A5007210453 @default.
• W4385159983 creator A5007653653 @default.
• W4385159983 creator A5014787140 @default.
• W4385159983 creator A5074827030 @default.
• W4385159983 creator A5076070873 @default.
• W4385159983 creator A5080802879 @default.
• W4385159983 date "2023-07-14" @default.
• W4385159983 modified "2023-09-25" @default.
• W4385159983 title "Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report" @default.
• W4385159983 cites W1978941081 @default.
• W4385159983 cites W2006355781 @default.
• W4385159983 cites W2015821563 @default.
• W4385159983 cites W2056583648 @default.
• W4385159983 cites W2071068758 @default.
• W4385159983 cites W2081775864 @default.
• W4385159983 cites W2101378745 @default.
• W4385159983 cites W2113748243 @default.
• W4385159983 cites W2133258774 @default.
• W4385159983 cites W2527882427 @default.
• W4385159983 cites W2560012607 @default.
• W4385159983 cites W2887265391 @default.
• W4385159983 cites W2894898056 @default.
• W4385159983 cites W2915276102 @default.
• W4385159983 cites W2962748362 @default.
• W4385159983 cites W3003305073 @default.
• W4385159983 cites W3026842436 @default.
• W4385159983 cites W3039718296 @default.
• W4385159983 cites W3049043669 @default.
• W4385159983 cites W3096764817 @default.
• W4385159983 cites W3107055748 @default.
• W4385159983 cites W3137147924 @default.
• W4385159983 cites W3143178728 @default.
• W4385159983 cites W3165820898 @default.
• W4385159983 cites W3167222023 @default.
• W4385159983 cites W3200479416 @default.
• W4385159983 cites W4285494573 @default.
• W4385159983 cites W4301187663 @default.
• W4385159983 doi "https://doi.org/10.1159/000530875" @default.
• W4385159983 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37484797" @default.
• W4385159983 hasPublicationYear "2023" @default.
• W4385159983 type Work @default.
• W4385159983 citedByCount "0" @default.
• W4385159983 crossrefType "journal-article" @default.
• W4385159983 hasAuthorship W4385159983A5007210453 @default.
• W4385159983 hasAuthorship W4385159983A5007653653 @default.
• W4385159983 hasAuthorship W4385159983A5014787140 @default.
• W4385159983 hasAuthorship W4385159983A5074827030 @default.
• W4385159983 hasAuthorship W4385159983A5076070873 @default.
• W4385159983 hasAuthorship W4385159983A5080802879 @default.
• W4385159983 hasBestOaLocation W43851599831 @default.
• W4385159983 hasConcept C126322002 @default.
• W4385159983 hasConcept C134018914 @default.
• W4385159983 hasConcept C142724271 @default.
• W4385159983 hasConcept C16005928 @default.
• W4385159983 hasConcept C203014093 @default.
• W4385159983 hasConcept C2776694085 @default.
• W4385159983 hasConcept C2776755627 @default.
• W4385159983 hasConcept C2776908417 @default.
• W4385159983 hasConcept C2778930706 @default.
• W4385159983 hasConcept C2779561371 @default.
• W4385159983 hasConcept C2780091579 @default.
• W4385159983 hasConcept C2780368995 @default.
• W4385159983 hasConcept C2781184683 @default.
• W4385159983 hasConcept C555293320 @default.
• W4385159983 hasConcept C71924100 @default.
• W4385159983 hasConcept C90924648 @default.
• W4385159983 hasConceptScore W4385159983C126322002 @default.
• W4385159983 hasConceptScore W4385159983C134018914 @default.
• W4385159983 hasConceptScore W4385159983C142724271 @default.
• W4385159983 hasConceptScore W4385159983C16005928 @default.
• W4385159983 hasConceptScore W4385159983C203014093 @default.
• W4385159983 hasConceptScore W4385159983C2776694085 @default.
• W4385159983 hasConceptScore W4385159983C2776755627 @default.
• W4385159983 hasConceptScore W4385159983C2776908417 @default.
• W4385159983 hasConceptScore W4385159983C2778930706 @default.
• W4385159983 hasConceptScore W4385159983C2779561371 @default.
• W4385159983 hasConceptScore W4385159983C2780091579 @default.
• W4385159983 hasConceptScore W4385159983C2780368995 @default.
• W4385159983 hasConceptScore W4385159983C2781184683 @default.
• W4385159983 hasConceptScore W4385159983C555293320 @default.
• W4385159983 hasConceptScore W4385159983C71924100 @default.
• W4385159983 hasConceptScore W4385159983C90924648 @default.
• W4385159983 hasLocation W43851599831 @default.
• W4385159983 hasLocation W43851599832 @default.
• W4385159983 hasOpenAccess W4385159983 @default.
• W4385159983 hasPrimaryLocation W43851599831 @default.
• W4385159983 hasRelatedWork W2012535120 @default.
• W4385159983 hasRelatedWork W2016079520 @default.
• W4385159983 hasRelatedWork W2077904829 @default.
• W4385159983 hasRelatedWork W2153388408 @default.
• W4385159983 hasRelatedWork W2192094876 @default.
• W4385159983 hasRelatedWork W2370461069 @default.
• W4385159983 hasRelatedWork W2397756258 @default.
• W4385159983 hasRelatedWork W2411221365 @default.
• W4385159983 hasRelatedWork W2507318694 @default.
• W4385159983 hasRelatedWork W2998100807 @default.

• next