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- Title
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.
- Authors
Sakakibara, Nana; Nagano, China; Ishiko, Shinya; Horinouchi, Tomoko; Yamamura, Tomohiko; Minamikawa, Shogo; Shima, Yuko; Nakanishi, Koichi; Ishimori, Shingo; Morisada, Naoya; Iijima, Kazumoto; Nozu, Kandai
- 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.
- Subjects
ASPARTATE aminotransferase; CALCIUM; CREATINE kinase; CREATININE; GENETICS; GLOMERULAR filtration rate; KIDNEYS; LACTATE dehydrogenase; X-linked genetic disorders; PHOSPHORUS; POTASSIUM; PROTEINS; QUESTIONNAIRES; URIC acid; GENETIC testing; SYMPTOMS; ALANINE aminotransferase; RETROSPECTIVE studies
- Publication
Pediatric Nephrology, 2020, Vol 35, Issue 12, p2319
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-020-04701-5