Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
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ORIGINAL ARTICLE
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2 Nana Sakakibara 1 & China Nagano 1 & Shinya Ishiko 1 & Tomoko Horinouchi 1 & Tomohiko Yamamura 1 & Shogo Minamikawa 1 & Yuko Shima 2 & Koichi Nakanishi 3 & Shingo Ishimori 1 & Naoya Morisada 1,4 & Kazumoto Iijima 1 & Kandai Nozu 1 Received: 26 February 2020 / Revised: 15 June 2020 / Accepted: 26 June 2020 # IPNA 2020
Abstract Background Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing. We retrospectively compared the characteristics of these two diseases using one of the largest cohorts to date. Methods We performed gene testing for clinically suspected Dent disease, leading to the genetic diagnosis of 85 males: 72 with Dent disease 1 and 13 with Dent disease 2. A retrospective review of the clinical findings and laboratory data obtained from questionnaires submitted in association with the gene testing was conducted for these cases. Results The following variables had significantly higher levels in Dent disease 2 than in Dent disease 1: height standard deviation score (height SDS), serum creatinine-based estimated GFR (Cr-eGFR) (median: 84 vs. 127 mL/min/1.73 m2, p < 0.01), serum aspartate aminotransferase (AST), serum alanine aminotransferase (ALT), serum lactate dehydrogenase (LDH), serum creatine phosphokinase (CK), serum potassium, serum inorganic phosphorus, serum uric acid, urine protein/creatinine ratio (median: 3.5 vs. 1.6 mg/mg, p < 0.01), and urine calcium/creatinine ratio. There were no significant differences in serum sodium, serum calcium, alkaline phosphatase (ALP), urine β2-microglobulin, incidence of nephrocalcinosis, and prevalence of intellectual disability or autism spectrum disorder. Conclusions The clinical and laboratory features of Dent disease 1 and Dent disease 2 were shown in this study. Notably, patients with Dent disease 2 showed kidney dysfunction at a younger age, which should provide a clue for the differential diagnosis of these diseases. Keywords Dent disease 1 . Dent disease 2 . CLCN5 . OCRL . Kidney dysfunction . Children . Genetics
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00467-020-04701-5) contains supplementary material, which is available to authorized users. * Nana Sakakibara [email protected] 1
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan
2
Department of Pediatrics, Wakayama Medical University, Wakayama, Japan
3
Department of Pediatrics, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan
4
Department of Clinical Genetics, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan
Introduction Dent diseas
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