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Abstract：
UNASSIGNED: The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians\' awareness of and attention to this disease.
UNASSIGNED: We analyzed the clinical and laboratory data of 15 Chinese children with Dent disease who were diagnosed and treated at our hospital between January 2017 and May 2023 and evaluated the expression of the CLCN5 and OCRL1 genes.
UNASSIGNED: All 15 patients were male and complained of proteinuria, and the incidence of low-molecular-weight proteinuria (LMWP) was 100.0% in both Dent disease 1 (DD1) and Dent disease 2 (DD2) patients. The incidence of hypercalciuria was 58.3% (7/12) and 66.7% (2/3) in DD1 and DD2 patients, respectively. Nephrocalcinosis and nephrolithiasis were found in 16.7% (2/12) and 8.3% (1/12) of DD1 patients, respectively. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in 1 patient, minimal change lesion in 5 patients, and small focal acute tubular injury in 1 patient. A total of 11 mutations in the CLCN5 gene were detected, including 3 missense mutations (25.0%, c.1756C > T, c.1166T > G, and c.1618G > A), 5 frameshift mutations (41.7%, c.407delT, c.1702_c.1703insC, c.137delC, c.665_666delGGinsC, and c.2200delG), and 3 nonsense mutations (25.0%, c.776G > A, c.1609C > T, and c.1152G > A). There was no significant difference in age or clinical phenotype among patients with different mutation types (p > 0.05). All three mutations in the OCRL1 gene were missense mutations (c.1477C > T, c.952C > T, and c.198A > G).
UNASSIGNED: Pediatric Dent disease is often misdiagnosed. Protein electrophoresis and genetic testing can help to provide an early and correct diagnosis.
UNASSIGNED: We analyzed the clinical and laboratory data of 15 Chinese children with Dent disease who were diagnosed and treated at our hospital between January 2017 and May 2023 and evaluated the expression of the CLCN5 and OCRL1 genes.
UNASSIGNED: All 15 patients were male and complained of proteinuria, and the incidence of low-molecular-weight proteinuria (LMWP) was 100.0% in both Dent disease 1 (DD1) and Dent disease 2 (DD2) patients. The incidence of hypercalciuria was 58.3% (7/12) and 66.7% (2/3) in DD1 and DD2 patients, respectively. Nephrocalcinosis and nephrolithiasis were found in 16.7% (2/12) and 8.3% (1/12) of DD1 patients, respectively. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in 1 patient, minimal change lesion in 5 patients, and small focal acute tubular injury in 1 patient. A total of 11 mutations in the CLCN5 gene were detected, including 3 missense mutations (25.0%, c.1756C > T, c.1166T > G, and c.1618G > A), 5 frameshift mutations (41.7%, c.407delT, c.1702_c.1703insC, c.137delC, c.665_666delGGinsC, and c.2200delG), and 3 nonsense mutations (25.0%, c.776G > A, c.1609C > T, and c.1152G > A). There was no significant difference in age or clinical phenotype among patients with different mutation types (p > 0.05). All three mutations in the OCRL1 gene were missense mutations (c.1477C > T, c.952C > T, and c.198A > G).
UNASSIGNED: Pediatric Dent disease is often misdiagnosed. Protein electrophoresis and genetic testing can help to provide an early and correct diagnosis.
摘要：
■临床特征，基因突变谱,回顾性分析15例Dent病患儿的治疗策略和预后，以提高儿科医生对该病的认识和重视。
■我们分析了2017年1月至2023年5月在我院诊断和治疗的15例中国儿童Dent病的临床和实验室数据，并评估了CLCN5和OCRL1基因的表达。
■所有15例患者均为男性，主诉为蛋白尿，在Dent病1（DD1）和Dent病2（DD2）患者中，低分子量蛋白尿（LMWP）的发生率为100.0％。DD1和DD2患者高钙尿症的发生率分别为58.3%(7/12)和66.7%(2/3)。分别。在DD1患者中，有16.7％（2/12）和8.3％（1/12）的肾钙化病和肾结石。分别。肾活检显示1例患者的局灶节段肾小球硬化（FSGS），5例患者的微小病变，1例局灶性急性肾小管损伤。共检测到11个CLCN5基因突变，包括3个错义突变(25.0%，c.1756C>T，c.1166T>G，和c.1618G>A），5个移码突变（41.7%，c.407delT,c.1702_c.1703insC，c.137delC,c.665_666delGGinsC,和c.2200delG），和3个无义突变(25.0%，c.776G>A，c.1609C>T,和c.1152G>A）。不同突变类型患者的年龄和临床表型差异无统计学意义(p>0.05)。OCRL1基因的三个突变均为错义突变(c.1477C>T,c.952C>T，和c.198A>G）。
■小儿痛风病常被误诊。蛋白质电泳和基因检测可以帮助提供早期和正确的诊断。
■我们分析了2017年1月至2023年5月在我院诊断和治疗的15例中国儿童Dent病的临床和实验室数据，并评估了CLCN5和OCRL1基因的表达。
■所有15例患者均为男性，主诉为蛋白尿，在Dent病1（DD1）和Dent病2（DD2）患者中，低分子量蛋白尿（LMWP）的发生率为100.0％。DD1和DD2患者高钙尿症的发生率分别为58.3%(7/12)和66.7%(2/3)。分别。在DD1患者中，有16.7％（2/12）和8.3％（1/12）的肾钙化病和肾结石。分别。肾活检显示1例患者的局灶节段肾小球硬化（FSGS），5例患者的微小病变，1例局灶性急性肾小管损伤。共检测到11个CLCN5基因突变，包括3个错义突变(25.0%，c.1756C>T，c.1166T>G，和c.1618G>A），5个移码突变（41.7%，c.407delT,c.1702_c.1703insC，c.137delC,c.665_666delGGinsC,和c.2200delG），和3个无义突变(25.0%，c.776G>A，c.1609C>T,和c.1152G>A）。不同突变类型患者的年龄和临床表型差异无统计学意义(p>0.05)。OCRL1基因的三个突变均为错义突变(c.1477C>T,c.952C>T，和c.198A>G）。
■小儿痛风病常被误诊。蛋白质电泳和基因检测可以帮助提供早期和正确的诊断。
