一家系2例先天性红细胞生成性卟啉病并文献复习

杨月芊; 韩洋; 张慈柳; 谢岷

doi:10.7499/j.issn.1008-8830.2503048

PDF(734 KB)

HTML

中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (10) : 1271-1275. DOI: 10.7499/j.issn.1008-8830.2503048

罕见病研究

一家系2例先天性红细胞生成性卟啉病并文献复习

作者信息 +

Two siblings with congenital erythropoietic porphyria in one family: case report and literature review

Author information +

文章历史 +

摘要

例1，女，7岁；例2，男（例1胞弟），3岁。2例患儿均在出生后出现粉红色尿，光照部位（颜面部、双手）出现皮肤水疱，继而破溃、结痂、瘢痕形成，关节挛缩导致活动障碍等临床表现。2例患儿基因检测均为UROS基因c.776T>C（p.Leu259Pro）纯合变异，确诊为UROS基因变异常染色体隐性遗传性先天性红细胞生成性卟啉病。该病例报道提示，对于不明原因婴幼儿期溶血性贫血、粉红色尿、严重光敏性皮炎者，应考虑先天性红细胞生成性卟啉病可能，尽早完善基因检测，提早干预治疗改善预后。

Abstract

Case 1 was a 7-year-old girl; Case 2 was her 3-year-old younger brother. Both children developed pink urine shortly after birth and exhibited blistering on photo-exposed areas (face and hands), followed by ulceration, crusting, scarring, and joint contractures leading to impaired mobility. Genetic testing in both patients identified a homozygous variant in the UROS gene, c.776T>C (p.Leu259Pro), confirming autosomal recessive congenital erythropoietic porphyria due to UROS mutations. This case report highlights that congenital erythropoietic porphyria should be considered in infants and young children with unexplained hemolytic anemia, pink urine, and severe photosensitive dermatitis. Early genetic testing is recommended to facilitate timely intervention and improve outcomes.

导出引用

杨月芊, 韩洋, 张慈柳, 等. 一家系2例先天性红细胞生成性卟啉病并文献复习[J]. 中国当代儿科杂志. 2025, 27(10): 1271-1275 https://doi.org/10.7499/j.issn.1008-8830.2503048

Yue-Qian YANG, Yang HAN, Ci-Liu ZHANG, et al. Two siblings with congenital erythropoietic porphyria in one family: case report and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(10): 1271-1275 https://doi.org/10.7499/j.issn.1008-8830.2503048

参考文献

列表( 原文顺序 | 文献年度倒序 | 文中引用次数倒序 ) 可视化分析

[1]	Madan P, Schaaf CP, Vardhan P, et al. Hans Gunther and his disease[J]. Photodermatol Photoimmunol Photomed, 2007, 23(6): 261-263. DOI: 10.1111/j.1600-0781.2007.00323.x . https://www.ncbi.nlm.nih.gov/pubmed/17986065 本文引用 [2]

[2]	Kahila A, Zamlout A, Mazloum A, et al. Congenital erythropoietic porphyria (Gunther disease): a case report[J]. Oxf Med Case Reports, 2020, 2020(7): omaa051. PMCID: PMC7376977. DOI: 10.1093/omcr/omaa051 . https://www.ncbi.nlm.nih.gov/pubmed/32728454 本文引用 [1]

[3]	Di Pierro E, Brancaleoni V, Granata F. Advances in understanding the pathogenesis of congenital erythropoietic porphyria[J]. Br J Haematol, 2016, 173(3): 365-379. DOI: 10.1111/bjh.13978 . https://www.ncbi.nlm.nih.gov/pubmed/26969896 本文引用 [2]

[4]	Horner ME, Alikhan A, Tintle S, et al. Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology[J]. Int J Dermatol, 2013, 52(12): 1464-1480. DOI: 10.1111/ijd.12305 . https://www.ncbi.nlm.nih.gov/pubmed/24261722 本文引用 [1]

[5]	Venkatesh P, Garg SP, Kumaran E, et al. Congenital porphyria with necrotizing scleritis in a 9-year-old child[J]. Clin Exp Ophthalmol, 2000, 28(4): 314-318. DOI: 10.1046/j.1442-9071.2000.00330.x . https://www.ncbi.nlm.nih.gov/pubmed/11021563

[6]

Bhusal

, Bhattarai

, Shah

, et al. Congenital erythropoietic porphyria: a case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients[J]. JAAD Case Rep, 2021, 10: 102-106. PMCID: PMC8022107. DOI: 10.1016/j.jdcr.2021.02.017 .

https://www.ncbi.nlm.nih.gov/pubmed/33850991

本文引用 [3]

[7]

Blouin

, Ged

, Bernardo-Seisdedos

, et al. Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy[J]. Mol Genet Metab Rep, 2021, 27: 100722. PMCID: PMC7890299. DOI: 10.1016/j.ymgmr.2021.100722 .

https://www.ncbi.nlm.nih.gov/pubmed/33659185

本文引用 [1]

[8]

Gucev

, Slavevska

, Tasic

, et al. Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)[J]. Indian J Hum Genet, 2011, 17(2): 104-107. PMCID: PMC3214312. DOI: 10.4103/0971-6866.86199 .

https://www.ncbi.nlm.nih.gov/pubmed/22090724

本文引用 [1]

[9]	Berry AA, Desnick RJ, Astrin KH, et al. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype[J]. Arch Dermatol, 2005, 141(12): 1575-1579. DOI: 10.1001/archderm.141.12.1575 . https://www.ncbi.nlm.nih.gov/pubmed/16365260

[10]	郭萍, 吴明倩, 李春鲜, 等. 先天性红细胞生成性卟啉病1例[J]. 皮肤病与性病, 2021, 43(1): 122-124. DOI: 10.3969/j.issn.1002-1310.2021.01.066 .

[11]	Suzuki H, Namiki T, Enzan N, et al. Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female[J]. J Dermatol, 2022, 49(6): e215-e216. DOI: 10.1111/1346-8138.16340 . https://www.ncbi.nlm.nih.gov/pubmed/35229343 本文引用 [1]

[12]	Guo S, Wang L, Li X, et al. Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria[J]. Blood Cells Mol Dis, 2014, 52(1): 57-58. DOI: 10.1016/j.bcmd.2013.07.012 . https://www.ncbi.nlm.nih.gov/pubmed/23953398 本文引用 [1]

[13]

Phillips

, Steensma

, Pulsipher

, et al. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria[J]. Blood, 2007, 109(6): 2618-2621. PMCID: PMC1852202. DOI: 10.1182/blood-2006-06-022848 .

https://www.ncbi.nlm.nih.gov/pubmed/17148589

本文引用 [5]

[14]	Desjardins MP, Naccache L, Hébert A, et al. Very early diagnosis and management of congenital erythropoietic porphyria[J]. Clin Pediatr (Phila), 2023, 62(5): 399-403. PMCID: PMC10170564. DOI: 10.1177/00099228221128661 . https://www.ncbi.nlm.nih.gov/pubmed/36217751 本文引用 [2]

[15]	Sudrié-Arnaud B, Legendre M, Snanoudj S, et al. An atypical case of congenital erythropoietic porphyria[J]. Genes (Basel), 2021, 12(11): 1828. PMCID: PMC8620571. DOI: 10.3390/genes12111828 . https://www.ncbi.nlm.nih.gov/pubmed/34828434

[16]	Goudet C, Ged C, Petit A, et al. Severe perinatal presentations of Günther's disease: series of 20 cases and perspectives[J]. Life (Basel), 2024, 14(1): 130. PMCID: PMC10817338. DOI: 10.3390/life14010130 . https://www.ncbi.nlm.nih.gov/pubmed/38255745 本文引用 [5]

[17]	Salomone B C, Ogueta C I, Reyes V C, et al. Congenital erythropoietic porphyria: case report and management recommendations[J]. Arch Argent Pediatr, 2018, 116(2): e300-e302. DOI: 10.5546/aap.2018.e300 . https://www.ncbi.nlm.nih.gov/pubmed/29557620

[18]	Di Pierro E, Russo R, Karakas Z, et al. Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis[J]. Eur J Haematol, 2015, 94(6): 491-497. DOI: 10.1111/ejh.12452 . https://www.ncbi.nlm.nih.gov/pubmed/25251786

[19]	Thien Kim DH, Kawazoe A, Bang PD, et al. Congenital erythropoietic porphyria: mutation of the uroporphyrinogen III cosynthase gene in a Vietnamese patient[J]. Case Rep Dermatol, 2013, 5(1): 105-110. PMCID: PMC3635963. DOI: 10.1159/000350679 . https://www.ncbi.nlm.nih.gov/pubmed/23626549

[20]	Baran M, Eliaçık K, Kurt I, et al. Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria[J]. Turk J Pediatr, 2013, 55(2): 218-221. https://www.ncbi.nlm.nih.gov/pubmed/24192686 本文引用 [1]

[21]	Hogeling M, Nakano T, Dvorak CC, et al. Severe neonatal congenital erythropoietic porphyria[J]. Pediatr Dermatol, 2011, 28(4): 416-420. DOI: 10.1111/j.1525-1470.2010.01376.x . https://www.ncbi.nlm.nih.gov/pubmed/21362030

[22]	Pandey M, Mukherjee SB, Patra B, et al. Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options[J]. J Pediatr Hematol Oncol, 2013, 35(4): e167-e170. DOI: 10.1097/MPH.0b013e3182707218 . https://www.ncbi.nlm.nih.gov/pubmed/23612387 本文引用 [1]

[23]	Martinez Peinado C, Díaz de Heredia C, To-Figueras J, et al. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation[J]. Pediatr Dermatol, 2013, 30(4): 484-489. DOI: 10.1111/pde.12117 . https://www.ncbi.nlm.nih.gov/pubmed/23557135

[24]	Moghbeli M, Maleknejad M, Arabi A, et al. Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria[J]. Mol Biol Rep, 2012, 39(6): 6731-6735. DOI: 10.1007/s11033-012-1497-z . https://www.ncbi.nlm.nih.gov/pubmed/22350154 本文引用 [1]

[25]	Ciftci V, Kılavuz S, Bulut FD, et al. Congenital erythropoietic porphyria with erythrodontia: a case report[J]. Int J Paediatr Dent, 2019, 29(4): 542-548. DOI: 10.1111/ipd.12473 . https://www.ncbi.nlm.nih.gov/pubmed/30706587

[26]	Egan DN, Yang Z, Phillips J, et al. Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria[J]. Blood, 2015, 126(2): 257-261. PMCID: PMC4497965. DOI: 10.1182/blood-2014-07-584664 . https://www.ncbi.nlm.nih.gov/pubmed/25972160 本文引用 [3]

[27]	Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: recent advances[J]. Mol Genet Metab, 2019, 128(3): 288-297. PMCID: PMC6597325. DOI: 10.1016/j.ymgme.2018.12.008 . https://www.ncbi.nlm.nih.gov/pubmed/30685241 本文引用 [1]

[28]	Katugampola RP, Anstey AV, Finlay AY, et al. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases[J]. Br J Dermatol, 2012, 167(4): 888-900. DOI: 10.1111/j.1365-2133.2012.11154.x . https://www.ncbi.nlm.nih.gov/pubmed/22804244 本文引用 [1]

[29]

Blouin

, Bernardo-Seisdedos

, Sasso

, et al. Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition[J]. Hum Mol Genet, 2017, 26(8): 1565-1576. DOI: 10.1093/hmg/ddx067 .

https://www.ncbi.nlm.nih.gov/pubmed/28334762

本文引用 [1]

[30]	Blouin JM, Duchartre Y, Costet P, et al. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria[J]. Proc Natl Acad Sci U S A, 2013, 110(45): 18238-18243. PMCID: PMC3831495 . DOI: 10.1073/pnas.1314177110 . https://www.ncbi.nlm.nih.gov/pubmed/24145442 本文引用 [1]

[31]	Guarini L, Piomelli S, Poh-Fitzpatrick MB. Hydroxyurea in congenital erythropoietic porphyria[J]. N Engl J Med, 1994, 330(15): 1091-1092. DOI: 10.1056/NEJM199404143301519 . https://www.ncbi.nlm.nih.gov/pubmed/8127351 本文引用 [1]

[32]

Peterlin

, Bonnelye

, Garnier

, et al. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: a case report[J]. Skin Health Dis, 2024, 4(2): e342. PMCID: PMC10988712. DOI: 10.1002/ski2.342 .

https://www.ncbi.nlm.nih.gov/pubmed/38577034

本文引用 [1]

[33]

Besnard

, Schmitt

, Galmiche-Rolland

, et al. Bone marrow transplantation in congenital erythropoietic porphyria: sustained efficacy but unexpected liver dysfunction[J]. Biol Blood Marrow Transplant, 2020, 26(4): 704-711. DOI: 10.1016/j.bbmt.2019.12.005 .

https://www.ncbi.nlm.nih.gov/pubmed/31843562

本文引用 [1]

[34]	Thomas C, Ged C, Nordmann Y, et al. Correction of congenital erythropoietic porphyria by bone marrow transplantation[J]. J Pediatr, 1996, 129(3): 453-456. DOI: 10.1016/s0022-3476(96)70082-3 . https://www.ncbi.nlm.nih.gov/pubmed/8804339

[35]	Karakurt N, Tavil B, Azik F, et al. Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1 [J]. Pediatr Transplant, 2015, 19(7): 803-805. DOI: 10.1111/petr.12571 . https://www.ncbi.nlm.nih.gov/pubmed/26392207

[36]	Dupuis-Girod S, Akkari V, Ged C, et al. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)[J]. Eur J Pediatr, 2005, 164(2): 104-107. DOI: 10.1007/s00431-004-1575-x . https://www.ncbi.nlm.nih.gov/pubmed/15703981 本文引用 [1]

[37]

ben Bdira

, González

, Pluta

, et al. Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria[J]. Hum Mol Genet, 2014, 23(21): 5805-5813. DOI: 10.1093/hmg/ddu298 .

https://www.ncbi.nlm.nih.gov/pubmed/24925316

本文引用 [1]

[38]

Prat

, Toutain

, Boutin

, et al. Mutation-specific guide RNA for compound heterozygous porphyria on-target scarless correction by CRISPR/Cas9 in stem cells[J]. Stem Cell Reports, 2020, 15(3): 677-693. PMCID: PMC7486222. DOI: 10.1016/j.stemcr.2020.07.015 .

https://www.ncbi.nlm.nih.gov/pubmed/32795423

本文引用 [1]