{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:52:53Z","timestamp":1760147573179,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:00:00Z","timestamp":1676592000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Fabry disease is an X-linked lysosomal storage disease, second in prevalence after Gaucher disease. The onset of symptoms occurs in childhood or adolescence with palmo-plantar burning pains, hypo hidrosis, angiokeratomas, and corneal deposits. In the absence of diagnosis and treatment, the disease will progress to the late phase, characterized by progressive cardiac, cerebral and renal damage, and possible death. We present the case of an 11-year-old male boy who was transferred to the Pediatric Nephrology Department for palmo-plantar burning pain and end stage renal disease. Following the evaluations for the etiology of end stage renal disease we excluded the vasculitis, the neurologic diseases, extrapulmonary tuberculosis. Because of suggestive aspect at CT scan and lack of etiologic diagnosis of renal insufficiency we performed lymph node and kidney biopsy, with a surprising result for storage disease. The specific investigation confirmed the diagnosis.<\/jats:p>","DOI":"10.3390\/genes14020516","type":"journal-article","created":{"date-parts":[[2023,2,20]],"date-time":"2023-02-20T04:58:23Z","timestamp":1676869103000},"page":"516","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Palm-Plant Pain, Sign of a Severe Systemic Disease? Case Report and Review of Literature"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3937-7425","authenticated-orcid":false,"given":"Iuliana Magdalena","family":"Starcea","sequence":"first","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lavinia","family":"Bodescu Amancei Ionescu","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tudor Ilie","family":"Lazaruc","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2640-8795","authenticated-orcid":false,"given":"Vasile Valeriu","family":"Lupu","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana Alexandra","family":"Bogos","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ileana","family":"Ioniuc","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felicia","family":"Dragan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy, University of Oradea, 410087 Oradea, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8147-3632","authenticated-orcid":false,"given":"Ancuta","family":"Lupu","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Stefana","family":"Galatanu","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9825-6711","authenticated-orcid":false,"given":"Ingrith Crenguta","family":"Miron","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Mocanu","sequence":"additional","affiliation":[{"name":"Pediatrics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,17]]},"reference":[{"key":"ref_1","first-page":"37","article-title":"Paediatric Fabry disease","volume":"5","author":"Ellaway","year":"2016","journal-title":"Transl. Pediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1007\/s00431-009-0937-9","article-title":"Fabry disease in children and the effects of enzyme replacement treatment","volume":"168","author":"Beck","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/gim.2014.120","article-title":"Fabry disease in infancy and early childhood: A systematic literature review","volume":"17","author":"Laney","year":"2015","journal-title":"Genet. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/j.1651-2227.2008.00700.x","article-title":"Cardiac manifestations of Anderson-Fabry disease in children and adolescents","volume":"97","author":"Kampmann","year":"2008","journal-title":"Acta Paediatr."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ymgme.2015.10.007","article-title":"The management and treatment of children with Fabry disease: A United States-based perspective","volume":"117","author":"Hopkin","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"54","DOI":"10.4269\/ajtmh.2013.12-0413","article-title":"Renal tuberculosis in the modern era","volume":"88","author":"Daher","year":"2013","journal-title":"Am. J. Trop. Med. Hyg."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1007\/s00431-003-1299-3","article-title":"The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents","volume":"162","author":"Ries","year":"2003","journal-title":"Eur. J. Pediatr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1097\/j.pain.0000000000002152","article-title":"Fabry disease pain: Patient and preclinical parallels","volume":"162","author":"Burand","year":"2021","journal-title":"Pain"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"113134","DOI":"10.1016\/j.expneurol.2019.113134","article-title":"Globotriaosylceramide-induced reduction of KCa1.1 channel activity and activation of the Notch1 signaling pathway in skin fibroblasts of male Fabry patients with pain","volume":"324","author":"Rickert","year":"2020","journal-title":"Exp. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13098-016-0146-4","article-title":"The usefulness of quantifying intraepidermal nerve fibers density in the diagnostic of diabetic peripheral neuropathy: A cross-sectional study","volume":"8","author":"Timar","year":"2016","journal-title":"Diabetol. Metab. Syndr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1007\/s00280-012-2047-z","article-title":"Persistent chemoneuropathy in patients receiving the plant alkaloids paclitaxel and vincristine","volume":"71","author":"Cata","year":"2013","journal-title":"Cancer Chemother. Pharmacol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1111\/cns.12542","article-title":"Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment","volume":"22","author":"Politei","year":"2016","journal-title":"CNS Neurosci. Ther."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"100547","DOI":"10.1016\/j.ymgmr.2019.100547","article-title":"Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients","volume":"22","author":"Pereira","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13023-020-1307-y","article-title":"Depressive symptoms in Fabry disease: The importance of coping, subjective health perception and pain","volume":"15","author":"Geurtsen","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_15","first-page":"179","article-title":"Psychological and social problems of children with chronic kidney disease","volume":"10","author":"Iorga","year":"2014","journal-title":"Eur. J. Sci. Theol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13023-022-02215-x","article-title":"Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective","volume":"17","author":"Ezgu","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Pitz, S., Kalkum, G., Arash, L., Karabul, N., Sodi, A., Larroque, S., Beck, M., and Gal, A. (2015). Ocular signs correlate well with disease severity and genotype in Fabry disease. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0120814"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/cge.13546","article-title":"Consensus recommendations for diagnosis, management and treatment of fabry disease in paediatric patients","volume":"96","author":"Germain","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1365-2133.2007.08002.x","article-title":"Fabry disease and the skin: Data from FOS, the Fabry outcome survey","volume":"157","author":"Orteu","year":"2007","journal-title":"Br. J. Dermatol."},{"key":"ref_20","first-page":"807","article-title":"Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients","volume":"32","author":"Skrunes","year":"2017","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"4187","DOI":"10.2147\/IJGM.S348346","article-title":"Pathological and Evolutive Correlations in Steroid Resistant Nephrotic Syndrome in Children","volume":"15","author":"Starcea","year":"2022","journal-title":"Int. J. Gen. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1177\/0300060517746559","article-title":"Focal segmental glomerulosclerosis in children complicated by posterior reversible encephalopathy syndrome","volume":"46","author":"Gavrilovici","year":"2018","journal-title":"J. Int. Med. Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2020.04.006","article-title":"A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females","volume":"130","author":"Stiles","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"100562","DOI":"10.1016\/j.ymgmr.2019.100562","article-title":"Newborn screening for Fabry disease in the western region of Japan","volume":"22","author":"Sawada","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_25","first-page":"70","article-title":"Identification of a Missense Mutation in the \u03b1-galactosidase A Gene in a Chinese Family with Fabry Disease","volume":"19","author":"Wu","year":"2018","journal-title":"Curr. Genom."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.clinbiochem.2014.09.018","article-title":"A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene","volume":"48","author":"Tuttolomondo","year":"2015","journal-title":"Clin. Biochem."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Saito, S., Ohno, K., and Sakuraba, H. (2013). Comparative study of structural changes caused by different substitutions at the same residue on alpha-galactosidase A. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0084267"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"908657","DOI":"10.3389\/fped.2022.908657","article-title":"Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients with Fabry Disease","volume":"10","author":"Muntean","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_29","first-page":"355","article-title":"Genetic testing in pediatrics-a narrative essay of challenges and possibilities in Romania","volume":"27","author":"Duicu","year":"2019","journal-title":"Rev. Romana Med. Lab."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"El Dib, R., Gomaa, H., Ortiz, A., Politei, J., Kapoor, A., and Barreto, F. (2017). Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0173358"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/cpt.790","article-title":"Lucerastat, an iminosugar for substrate reduction therapy: Tolerability, pharmacodynamics, and pharmacokinetics in patients with fabry disease on enzyme replacement","volume":"103","author":"Oder","year":"2018","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/jimd.12228","article-title":"Developments in the treatment of Fabry disease","volume":"43","author":"Hollak","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Arends, M., Biegstraaten, M., Hughes, D.A., Mehta, A., Elliott, P.M., Oder, D., Watkinson, O.T., Vaz, F.M., van Kuilenburg, A.B.P., and Wanner, C. (2017). Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0182379"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.ekir.2019.11.013","article-title":"Current and investigational therapeutics for Fabry disease","volume":"5","author":"Felis","year":"2019","journal-title":"Kidney Int. Rep."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Weidemann, F., Jovanovic, A., Herrmann, K., and Vardarli, I. (2022). Chaperone therapy in Fabry disease. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23031887"},{"key":"ref_36","unstructured":"(2022, December 17). Available online: https:\/\/galafoldamenabilitytable.com."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1038\/s41431-020-0677-x","article-title":"Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: Real-life data","volume":"28","author":"Riccio","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2054358120985627","DOI":"10.1177\/2054358120985627","article-title":"Renal manifestations of Fabry disease: A narrative review","volume":"8","author":"Silva","year":"2021","journal-title":"Can. J. Kidney Health Dis."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"356","DOI":"10.12688\/f1000research.13708.1","article-title":"Variable phenotypic presentations of renal involvement in Fabry disease: A case series","volume":"7","author":"McCloskey","year":"2018","journal-title":"F1000Research"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/jimd.12080","article-title":"Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1\/2 clinical trial","volume":"42","author":"Schiffmann","year":"2019","journal-title":"J. Inherit. Metab. 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