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.

Latar belakang. Anak dengan penyakit jantung bawaan (PJB) pirau kiri ke kanan lebih mudah menderita pneumonia. Seng merupakan trace element yang berperan dalam sistem imunitas tubuh. Tujuan. Membuktikan pengaruh suplementasi seng dalam mencegah kejadian pneumonia pada anak PJB pirau kiri ke kanan. Metode. Dilakukan double blind randomized controlled trial pada anak PJB pirau kiri ke kanan usia 12-60 bulan di Poliklinik Kardiologi Anak RS dr Kariadi. Subjek penelitian dibagi 2 kelompok yang mendapat suplementasi seng 20 mg/hari dan plasebo, pemberian selama 2 minggu, selanjutnya dipantau selama 3 bulan. Data kejadian pneumonia dikumpulkan melalui wawancara saat kontrol atau melalui telepon setiap 2 minggu selama 3 bulan. Pemeriksaan antropometri dan laboratorium dilakukan sebelum dan sesudah suplementasi. Analisis statistik dilakukan dengan uji chi-square dan Mann-Whitney. Hasil. Subjek 40 anak dengan PJB pirau kiri ke kanan didapatkan kejadian pneumonia pada kelompok seng (5%) lebih rendah dibanding plasebo (30%), perbedaan ini tidak berbeda bermakna. Episode pneumonia lebih rendah pada kelompok seng 1 kali dibandingkan plasebo 1-2 kali selama 3 bulan pengamatan, tidak berbeda bermakna. Terdapat peningkatan kadar seng secara bermakna pada kelompok perlakuan dari median 57,55 menjadi 72,42 mcg/dL dibandingkan plasebo 42,40 menjadi 52,85 mcg/dL (p=0,002). Terdapat perbedaan bermakna selisih peningkatan kadar seng pada kelompok seng 20 mcg/dL dibanding plasebo 7,25 mcg/dL (p=0,004). Didapatkan manfaat suplementasi seng terhadap pencegahan pneumonia dengan relative risk reduction (RRR) 83%. Kesimpulan. Suplementasi seng menurunkan kejadian pneumonia pada anak PJB pirau kiri ke kanan. Sari Pediatri 2014;16(4):221-8.Kata kunci: penyakit jantung bawaan (PJB) pirau kiri ke kanan, suplementasi seng, kejadian pneumonia