Intermediate cystinosis: a case report of 10-year treatment with cysteamine.

Autor: Kawamura M; Department of Nephrology, Center Hospital of the National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan., Katagiri D; Department of Nephrology, Center Hospital of the National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan. dkatagiri@hosp.ncgm.go.jp., Yamamoto Y; Department of Ophthalmology, Center Hospital of the National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan., Shimada K; Department of Nephrology, Center Hospital of the National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan., Higashi S; Department of Pediatrics, Saiseikai Yokohamashi Tobu Hospital, 3-6-1 Shimosueyoshi, Tsurumi-Ku, Yokohama-Shi, Kanagawa, 230-0012, Japan., Otani M; Department of Diagnostic Pathology, International University of Health and Welfare, Mita Hospital, 1-4-3 Mita, Minato-Ku, Tokyo, 108-8329, Japan., Uesugi N; Department of Pathology, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-Ku, Fukuoka, 814-0180, Japan., Takano H; Department of Nephrology, Center Hospital of the National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan., Shimizu Y; Department of Laboratory Animal Medicine, Research Institute, National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan., Okamura T; Department of Laboratory Animal Medicine, Research Institute, National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama Shinjuku-Ku, Tokyo, 162-8655, Japan.
Jazyk: angličtina
Zdroj: BMC nephrology [BMC Nephrol] 2024 Aug 27; Vol. 25 (1), pp. 275. Date of Electronic Publication: 2024 Aug 27.
DOI: 10.1186/s12882-024-03722-8
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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