Abstract：
OBJECTIVE: Cryoglobulinemia is a pathological condition characterized by the presence of cryoglobulins in the blood, with cryoglobulinemic glomerulonephritis being the most frequent form of renal involvement. Fanconi syndrome presents as a generalized dysfunction of the proximal tubule, characterized by the presence of polyuria, phosphaturia, glycosuria, proteinuria, proximal renal tubular acidosis, and osteomalacia. We aimed to present five cases co-occurring with Fanconi syndrome and cryoglobulinemia.
METHODS: We retrospectively summarized the cases of five patients with Fanconi syndrome and cryoglobulinemia at Peking Union Medical College Hospital from January 2012 to June 2022. The clinical features, diagnosis, treatment, and prognosis were systematically analyzed.
RESULTS: All five patients exhibited typical features of Fanconi syndrome, and cryoglobulinemia was concurrently detected in all cases. These patients also exhibit positive anti-nuclear antibody spectrum and hyperglobulinemia, and IgM constitutes the predominant monoclonal component in cryoglobulins. In addition to supplemental treatment, timely immunosuppressive therapy may potentially benefit the long-term renal prognosis of patients with this condition.
CONCLUSIONS: Our findings highlight the rare co-occurrence of Fanconi syndrome and cryoglobulinemia in clinical practice. Despite the lack of causal evidence, the coexistence of Fanconi syndrome and tubulointerstitial injury is also noteworthy in patients with cryoglobulinemia, underscoring the importance of thorough evaluation and tailored management in patients presenting with overlapping renal manifestations. Key Points • Patients with mixed cryoglobulinemia can clinically present with tubulointerstitial injury, specifically manifesting as Fanconi syndrome. • In addition to typical symptoms of Fanconi syndrome, these patients also exhibit positive anti-nuclear antibody spectrum and hyperglobulinemia, while IgM constitutes the monoclonal component in cryoglobulins. • Timely immunosuppressive therapy may improve long-term renal prognosis in these patients.
METHODS: We retrospectively summarized the cases of five patients with Fanconi syndrome and cryoglobulinemia at Peking Union Medical College Hospital from January 2012 to June 2022. The clinical features, diagnosis, treatment, and prognosis were systematically analyzed.
RESULTS: All five patients exhibited typical features of Fanconi syndrome, and cryoglobulinemia was concurrently detected in all cases. These patients also exhibit positive anti-nuclear antibody spectrum and hyperglobulinemia, and IgM constitutes the predominant monoclonal component in cryoglobulins. In addition to supplemental treatment, timely immunosuppressive therapy may potentially benefit the long-term renal prognosis of patients with this condition.
CONCLUSIONS: Our findings highlight the rare co-occurrence of Fanconi syndrome and cryoglobulinemia in clinical practice. Despite the lack of causal evidence, the coexistence of Fanconi syndrome and tubulointerstitial injury is also noteworthy in patients with cryoglobulinemia, underscoring the importance of thorough evaluation and tailored management in patients presenting with overlapping renal manifestations. Key Points • Patients with mixed cryoglobulinemia can clinically present with tubulointerstitial injury, specifically manifesting as Fanconi syndrome. • In addition to typical symptoms of Fanconi syndrome, these patients also exhibit positive anti-nuclear antibody spectrum and hyperglobulinemia, while IgM constitutes the monoclonal component in cryoglobulins. • Timely immunosuppressive therapy may improve long-term renal prognosis in these patients.
摘要：
目的：冷球蛋白血症是一种病理状态，其特征是血液中存在冷球蛋白，冷球蛋白血症性肾小球肾炎是最常见的肾脏受累形式。Fanconi综合征表现为近端小管的全身性功能障碍，以存在多尿为特征，磷尿，糖尿,蛋白尿,近端肾小管酸中毒，和骨软化症。我们旨在介绍5例并发范可尼综合征和冷球蛋白血症的病例。
方法：回顾性总结北京协和医院2012年1月至2022年6月收治的5例范可尼综合征和冷球蛋白血症患者的临床资料。临床特征，诊断,治疗,并对预后进行系统分析。
结果：所有5例患者均表现出典型的Fanconi综合征特征，在所有病例中同时检测到冷球蛋白血症。这些患者还表现出抗核抗体谱阳性和高球蛋白血症，IgM是冷球蛋白中主要的单克隆成分。除了补充治疗，及时的免疫抑制治疗可能有利于这种疾病患者的长期肾脏预后.
结论：我们的发现强调了范可尼综合征和冷球蛋白血症在临床实践中的罕见并存。尽管缺乏因果证据,在冷球蛋白血症患者中，范可尼综合征和肾小管间质损伤的共存也值得注意，强调对出现重叠肾脏表现的患者进行全面评估和量身定制管理的重要性。要点•混合性冷球蛋白血症患者可在临床上出现肾小管间质损伤，特别表现为Fanconi综合征.•除了范可尼综合征的典型症状，这些患者还表现出抗核抗体谱阳性和高球蛋白血症，而IgM构成冷球蛋白的单克隆成分。及时的免疫抑制治疗可以改善这些患者的长期肾脏预后。
方法：回顾性总结北京协和医院2012年1月至2022年6月收治的5例范可尼综合征和冷球蛋白血症患者的临床资料。临床特征，诊断,治疗,并对预后进行系统分析。
结果：所有5例患者均表现出典型的Fanconi综合征特征，在所有病例中同时检测到冷球蛋白血症。这些患者还表现出抗核抗体谱阳性和高球蛋白血症，IgM是冷球蛋白中主要的单克隆成分。除了补充治疗，及时的免疫抑制治疗可能有利于这种疾病患者的长期肾脏预后.
结论：我们的发现强调了范可尼综合征和冷球蛋白血症在临床实践中的罕见并存。尽管缺乏因果证据,在冷球蛋白血症患者中，范可尼综合征和肾小管间质损伤的共存也值得注意，强调对出现重叠肾脏表现的患者进行全面评估和量身定制管理的重要性。要点•混合性冷球蛋白血症患者可在临床上出现肾小管间质损伤，特别表现为Fanconi综合征.•除了范可尼综合征的典型症状，这些患者还表现出抗核抗体谱阳性和高球蛋白血症，而IgM构成冷球蛋白的单克隆成分。及时的免疫抑制治疗可以改善这些患者的长期肾脏预后。
