Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report
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 Engli...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-07-01
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| Series: | Case Reports in Nephrology and Dialysis |
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| Online Access: | https://beta.karger.com/Article/FullText/530875 |
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| author | Cahyani Gita Ambarsari Retno Palupi-Baroto Fira Alyssa Gabriella Sinuraya Elvi Suryati Etty Widyastuti Suci Widhiati |
| author_facet | Cahyani Gita Ambarsari Retno Palupi-Baroto Fira Alyssa Gabriella Sinuraya Elvi Suryati Etty Widyastuti Suci Widhiati |
| author_sort | Cahyani Gita Ambarsari |
| collection | DOAJ |
| description | 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 COL7A1 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 COL7A1 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. |
| first_indexed | 2024-03-12T15:29:53Z |
| format | Article |
| id | doaj.art-c1f59dde3eab49f3961197aecdb1c836 |
| institution | Directory Open Access Journal |
| issn | 2296-9705 |
| language | English |
| last_indexed | 2024-03-12T15:29:53Z |
| publishDate | 2023-07-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Nephrology and Dialysis |
| spelling | doaj.art-c1f59dde3eab49f3961197aecdb1c8362023-08-10T08:11:07ZengKarger PublishersCase Reports in Nephrology and Dialysis2296-97052023-07-01131758310.1159/000530875530875Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case ReportCahyani Gita Ambarsari0https://orcid.org/0000-0003-0387-1031Retno Palupi-Baroto1Fira Alyssa Gabriella Sinuraya2Elvi Suryati3Etty Widyastuti4Suci Widhiati5Department of Child Health, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDepartment of Child Health, Faculty of Medicine, Public Health and Nursing Universitas Gadjah Mada/Dr. Sardjito General Hospital, Yogyakarta, IndonesiaDepartment of Child Health, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDepartment of Child Health, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaPuri Betik Hati Women and Children Hospital, Bandar Lampung, IndonesiaDepartment of Dermatology and Venereology, Faculty of Medicine, Universitas Sebelas Maret, Dr. Moewardi Hospital, Surakarta, IndonesiaLong-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 COL7A1 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 COL7A1 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.https://beta.karger.com/Article/FullText/530875col7a1cyclophosphamidehematuriaimmunoglobulin a nephropathyimmunosuppressionproteinuriasteroid-resistant children |
| spellingShingle | Cahyani Gita Ambarsari Retno Palupi-Baroto Fira Alyssa Gabriella Sinuraya Elvi Suryati Etty Widyastuti Suci Widhiati Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report Case Reports in Nephrology and Dialysis col7a1 cyclophosphamide hematuria immunoglobulin a nephropathy immunosuppression proteinuria steroid-resistant children |
| title | Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report |
| title_full | Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report |
| title_fullStr | Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report |
| title_full_unstemmed | Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report |
| title_short | Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report |
| title_sort | nephropathy in a child with severe recessive dystrophic epidermolysis bullosa treated with cyclophosphamide a case report |
| topic | col7a1 cyclophosphamide hematuria immunoglobulin a nephropathy immunosuppression proteinuria steroid-resistant children |
| url | https://beta.karger.com/Article/FullText/530875 |
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