Intermediate cystinosis: a case report of 10-year treatment with cysteamine
Rattachement africain : jp. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
BACKGROUND: Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases. Patients with intermediate cystinosis may not exhibit the typical symptoms of cystinosis, such as Fanconi syndrome and ocular symptoms. Because of its diverse clinical presentation and rarity, intermediate cystinosis can be difficult to diagnose. Additionally, few patients can tolerate cystine-depleting drugs, such as cysteamine, because of their complicated administration schedules and side effects. We report a case of intermediate cystinosis that was treated with cysteamine for 10 years. CASE PRESENTATION: Urinary abnormalities were first diagnosed when the patient was 3 years of age during a health examination specifically for 3-year-old children, which is unique to Japan. Cystinosis was diagnosed when the patient was 12 years of age. Cysteamine therapy was initiated and regular cystine concentration measurements were performed. Although proteinuria persisted, the patient's renal function progressed slowly. Two renal biopsies were performed, and multinucleated podocytes and cystine crystals without focal segmental glomerulosclerosis lesions were observed in the biopsy specimens. The patient's renal function remained stable. CONCLUSIONS: This case of intermediate cystinosis was treated with cysteamine over the course of 10 years. Intermediate cystinosis requires an appropriate diagnosis and long-term treatment.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Intermediate cystinosis: a case report of 10-year treatment with cysteamine
- Date Crossref
- 27/08/2024
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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National Center for Global Health and Medicine Department of Nephrology pays non établi dans la noticeÉtablissement de santé
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Mita Hospital pays non établi dans la noticeÉtablissement de santé
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Fukuoka University pays non établi dans la noticeUniversité ou école supérieure
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Saiseikai Yokohamashi Tobu Hospital Department of Pediatrics pays non établi dans la noticeÉtablissement de santé
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International University of Health and Welfare Department of Diagnostic Pathology pays non établi dans la noticeUniversité ou école supérieure
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Faculty of Medicine Department of Pathology pays non établi dans la noticeUniversité ou école supérieure
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Department of Laboratory Animal Medicine pays non établi dans la noticeStructure de recherche
Department of Nephrology — National Center for Global Health and Medicine, Mita Hospital et Fukuoka University, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.