Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature
Abstract Background This study aimed to explore the clinical features of gout in adult patients with glycogen storage disease type Ia (GSD Ia). Methods Ninety-five adult patients with GSD Ia admitted to Peking Union Medical College Hospital were retrospectively analysed. A clinical diagnosis of GSD...
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| Format: | Article |
| Language: | English |
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BMC
2022-02-01
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| Series: | Arthritis Research & Therapy |
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| Online Access: | https://doi.org/10.1186/s13075-021-02706-5 |
| _version_ | 1818501152119980032 |
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| author | Na Xu Xinxin Han Yun Zhang Xiaoming Huang Weiguo Zhu Min Shen Wen Zhang Chen Jialin Min Wei Zhengqing Qiu Xuejun Zeng |
| author_facet | Na Xu Xinxin Han Yun Zhang Xiaoming Huang Weiguo Zhu Min Shen Wen Zhang Chen Jialin Min Wei Zhengqing Qiu Xuejun Zeng |
| author_sort | Na Xu |
| collection | DOAJ |
| description | Abstract Background This study aimed to explore the clinical features of gout in adult patients with glycogen storage disease type Ia (GSD Ia). Methods Ninety-five adult patients with GSD Ia admitted to Peking Union Medical College Hospital were retrospectively analysed. A clinical diagnosis of GSD Ia was confirmed in all patients through gene sequencing. All patients had hyperuricaemia; 31 patients complicated with gout were enrolled, and 64 adult GSD Ia patients with asymptomatic hyperuricaemia were selected as a control group during the same period. Clinical characteristics were analysed and compared between the two groups. Results Thirty-one of the 95 patients had complications of gout (median age, 25 years; 11 (35.5%) females). All 31 patients had hepatomegaly, abnormal liver function, fasting hypoglycaemia, hyperuricaemia, hyperlipaemia, and hyperlacticaemia. A protuberant abdomen, growth retardation, recurrent epistaxis, and diarrhoea were the most common clinical manifestations. Among these 31 patients, 10 patients (32.3%) had gout as the presenting manifestation and were diagnosed with GSD Ia at a median time of 5 years (range, 1–14) after the first gout flare. The median age of gout onset was 18 years (range, 10–29). Fifteen of the 31 GSD Ia-related gout patients were complicated with gouty tophi, which has an average incidence time of 2 years after the first gouty flare. The mean value of the maximum serum uric acid (SUA) was 800.5 μmol/L (range, 468–1068). The incidence of gout in adult GSD Ia patients was significantly associated with the initial age of regular treatment with raw corn starch, the proportion of urate-lowering therapy initiated during the asymptomatic hyperuricaemic stage, maximum SUA level, and mean cholesterol level. Conclusions Determination of GSD Ia should be performed for young-onset gout patients with an early occurrence of gouty tophi, especially in patients with hepatomegaly, recurrent hypoglycaemia, or growth retardation. Early detection and long-term regulatory management of hyperuricaemia, in addition to early raw corn starch and lifestyle intervention, should be emphasized for GSD Ia patients in order to maintain good metabolic control. Trial registration Retrospectively registered. |
| first_indexed | 2024-12-10T20:52:17Z |
| format | Article |
| id | doaj.art-b2202a9ef6024f92af3fc4a2e4702985 |
| institution | Directory Open Access Journal |
| issn | 1478-6362 |
| language | English |
| last_indexed | 2024-12-10T20:52:17Z |
| publishDate | 2022-02-01 |
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| record_format | Article |
| series | Arthritis Research & Therapy |
| spelling | doaj.art-b2202a9ef6024f92af3fc4a2e47029852022-12-22T01:34:04ZengBMCArthritis Research & Therapy1478-63622022-02-0124111610.1186/s13075-021-02706-5Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literatureNa Xu0Xinxin Han1Yun Zhang2Xiaoming Huang3Weiguo Zhu4Min Shen5Wen Zhang6Chen Jialin7Min Wei8Zhengqing Qiu9Xuejun Zeng10Department of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Department of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Department of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Department of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Department of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical CollegeDepartment of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical CollegeDepartment of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of family medicine & Division of General Internal Medicine, Department of medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases (Peking Union Medical College Hospital)Abstract Background This study aimed to explore the clinical features of gout in adult patients with glycogen storage disease type Ia (GSD Ia). Methods Ninety-five adult patients with GSD Ia admitted to Peking Union Medical College Hospital were retrospectively analysed. A clinical diagnosis of GSD Ia was confirmed in all patients through gene sequencing. All patients had hyperuricaemia; 31 patients complicated with gout were enrolled, and 64 adult GSD Ia patients with asymptomatic hyperuricaemia were selected as a control group during the same period. Clinical characteristics were analysed and compared between the two groups. Results Thirty-one of the 95 patients had complications of gout (median age, 25 years; 11 (35.5%) females). All 31 patients had hepatomegaly, abnormal liver function, fasting hypoglycaemia, hyperuricaemia, hyperlipaemia, and hyperlacticaemia. A protuberant abdomen, growth retardation, recurrent epistaxis, and diarrhoea were the most common clinical manifestations. Among these 31 patients, 10 patients (32.3%) had gout as the presenting manifestation and were diagnosed with GSD Ia at a median time of 5 years (range, 1–14) after the first gout flare. The median age of gout onset was 18 years (range, 10–29). Fifteen of the 31 GSD Ia-related gout patients were complicated with gouty tophi, which has an average incidence time of 2 years after the first gouty flare. The mean value of the maximum serum uric acid (SUA) was 800.5 μmol/L (range, 468–1068). The incidence of gout in adult GSD Ia patients was significantly associated with the initial age of regular treatment with raw corn starch, the proportion of urate-lowering therapy initiated during the asymptomatic hyperuricaemic stage, maximum SUA level, and mean cholesterol level. Conclusions Determination of GSD Ia should be performed for young-onset gout patients with an early occurrence of gouty tophi, especially in patients with hepatomegaly, recurrent hypoglycaemia, or growth retardation. Early detection and long-term regulatory management of hyperuricaemia, in addition to early raw corn starch and lifestyle intervention, should be emphasized for GSD Ia patients in order to maintain good metabolic control. Trial registration Retrospectively registered.https://doi.org/10.1186/s13075-021-02706-5Glycogen storage diseaseType IaGoutHyperuricaemia |
| spellingShingle | Na Xu Xinxin Han Yun Zhang Xiaoming Huang Weiguo Zhu Min Shen Wen Zhang Chen Jialin Min Wei Zhengqing Qiu Xuejun Zeng Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature Arthritis Research & Therapy Glycogen storage disease Type Ia Gout Hyperuricaemia |
| title | Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature |
| title_full | Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature |
| title_fullStr | Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature |
| title_full_unstemmed | Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature |
| title_short | Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature |
| title_sort | clinical features of gout in adult patients with type ia glycogen storage disease a single centre retrospective study and a review of literature |
| topic | Glycogen storage disease Type Ia Gout Hyperuricaemia |
| url | https://doi.org/10.1186/s13075-021-02706-5 |
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