acc601121c7e441edc5f59745e4d6fd9 306944.pdf ef7f184addac6cd88cea4b93ce8114c255d912e9 306944.pdf a48cfda645b6ad287ff8bbb918edf8089dbb2ab241471ddac4cbf66bc55e7a79 306944.pdf Title: Dent’s Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis Subject: Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent’s disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have mutations in the CLCN5 gene. We performed a review of the literature and evaluated the case series (n = 6) of a single center in Spain, reviewing the natural evolution of kidney stones, clinical implications, laboratory analyses, radiological development, and treatment. All patients had a genetically confirmed diagnosis, with the CLCN5 mutation being the most frequent (66%). All patients had proteinuria and albuminuria, while only two and three presented hypercalciuria and phosphate abnormalities, respectively. Only one patient did not develop lithiasis, with most (60%) requiring extracorporeal shock wave lithotripsy or surgery during follow-up. Most of the patients are under nephrological follow-up, and two have either received a renal transplant or are awaiting one. The management of these patients is similar to that with lithiasis of non-monogenic origin, with the difference that early genetic diagnosis can help avoid unnecessary treatments, genetic counseling can be provided, and some monogenic kidney stones may benefit from targeted treatments. Keywords: kidney stones; lithiasis; monogenic; Dent’s disease Author: Lucía Diéguez, Melissa Pilco, Sofía Butori, Andrés Kanashiro, Josep Balaña, Esteban Emiliani, Bhaskar K. Somani and Oriol Angerri Creator: LaTeX with hyperref Producer: pdfTeX-1.40.25 CreationDate: Tue Jun 11 08:15:13 2024 CEST ModDate: Tue Jun 11 08:18:37 2024 CEST Custom Metadata: no Metadata Stream: no Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 9 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 2013305 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- YSPQJI+VnURWPalladioL-Bold Type 1 Custom yes yes yes 10 0 NPIZBZ+URWPalladioL-Bold Type 1 Custom yes yes yes 16 0 EUOIJE+URWPalladioL-Roma Type 1 Custom yes yes yes 22 0 YXZHEO+URWPalladioL-Ital Type 1 Custom yes yes yes 27 0 DDMOHK+VnURWPalladioL Type 1 Custom yes yes yes 32 0 UIJACC+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 48 0 BSDWLC+TimesNewRomanPSMT Type 1C WinAnsi yes yes no 51 0 URYLRZ+URWPalladioL-BoldItal Type 1 Custom yes yes yes 74 0 KPOKNK+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 90 0 KPOKOK+PalatinoLinotype CID TrueType Identity-H yes yes yes 93 0 KPOKOL+PalatinoLinotype TrueType WinAnsi yes yes no 99 0 KPOKON+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 102 0 KPOKNK+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 112 0 KPOKOK+PalatinoLinotype CID TrueType Identity-H yes yes yes 115 0 KPOKOL+PalatinoLinotype TrueType WinAnsi yes yes no 121 0 KPOKON+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 124 0 KPOKNK+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 137 0 KPOKOK+PalatinoLinotype CID TrueType Identity-H yes yes yes 140 0 KPOKOL+PalatinoLinotype TrueType WinAnsi yes yes no 146 0 KPOKON+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 149 0 KPOLJK+PalatinoLinotype TrueType MacRoman yes yes no 152 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2025-02-04 02:47:36 CET RepresentationInformation: 306944.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2025-02-03 11:59:22 CET Size: 2013305 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 272 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: section.1 Item: Title: Materials and Methods Destination: section.2 Item: Title: Results: Dent’s Disease in Our Center Destination: section.3 Item: Title: Discussion Destination: section.4 Item: Title: Conclusions Destination: section.5 Item: Title: References Destination: section.6 Info: Title: Dent’s Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis Author: Lucía Diéguez, Melissa Pilco, Sofía Butori, Andrés Kanashiro, Josep Balaña, Esteban Emiliani, Bhaskar K. Somani and Oriol Angerri Subject: Kidney stones are becoming increasingly common, affecting up to 10% of adults. A small percentage are of monogenic origin, such as Dent’s disease (DD). DD is a syndrome that causes low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis. It is X-linked, and most patients have mutations in the CLCN5 gene. We performed a review of the literature and evaluated the case series (n = 6) of a single center in Spain, reviewing the natural evolution of kidney stones, clinical implications, laboratory analyses, radiological development, and treatment. All patients had a genetically confirmed diagnosis, with the CLCN5 mutation being the most frequent (66%). All patients had proteinuria and albuminuria, while only two and three presented hypercalciuria and phosphate abnormalities, respectively. Only one patient did not develop lithiasis, with most (60%) requiring extracorporeal shock wave lithotripsy or surgery during follow-up. Most of the patients are under nephrological follow-up, and two have either received a renal transplant or are awaiting one. The management of these patients is similar to that with lithiasis of non-monogenic origin, with the difference that early genetic diagnosis can help avoid unnecessary treatments, genetic counseling can be provided, and some monogenic kidney stones may benefit from targeted treatments. Keywords: kidney stones; lithiasis; monogenic; Dent’s disease Creator: LaTeX with hyperref Producer: pdfTeX-1.40.25 CreationDate: Tue Jun 11 08:15:13 CEST 2024 ModDate: Tue Jun 11 08:18:37 CEST 2024 ID: 0xda49f9fc9d03753a98ba4b8edbae3c2d, 0xda49f9fc9d03753a98ba4b8edbae3c2d Filters: FilterPipeline: FlateDecode Fonts: Type1: Font: BaseFont: DDMOHK+VnURWPalladioL FontSubset: true FirstChar: 178 LastChar: 226 FontDescriptor: FontName: DDMOHK+VnURWPalladioL Flags: Symbolic FontBBox: -166, -283, 1021, 943 FontFile: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: NPIZBZ+URWPalladioL-Bold FontSubset: true FirstChar: 3 LastChar: 241 FontDescriptor: FontName: NPIZBZ+URWPalladioL-Bold Flags: Symbolic FontBBox: -152, -301, 1000, 935 FontFile: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: EUOIJE+URWPalladioL-Roma FontSubset: true FirstChar: 2 LastChar: 241 FontDescriptor: FontName: EUOIJE+URWPalladioL-Roma Flags: Symbolic FontBBox: -166, -283, 1021, 943 FontFile: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: YSPQJI+VnURWPalladioL-Bold FontSubset: true FirstChar: 178 LastChar: 189 FontDescriptor: FontName: YSPQJI+VnURWPalladioL-Bold Flags: Symbolic FontBBox: -152, -301, 1000, 935 FontFile: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: URYLRZ+URWPalladioL-BoldItal FontSubset: true FirstChar: 110 LastChar: 110 FontDescriptor: FontName: URYLRZ+URWPalladioL-BoldItal Flags: Symbolic FontBBox: -170, -300, 1073, 935 FontFile: true EncodingDictionary: Differences: true ToUnicode: true Font: BaseFont: YXZHEO+URWPalladioL-Ital FontSubset: true FirstChar: 46 LastChar: 174 FontDescriptor: FontName: YXZHEO+URWPalladioL-Ital Flags: Symbolic FontBBox: -170, -305, 1010, 941 FontFile: true EncodingDictionary: Differences: true ToUnicode: true Pages: Page: Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 61, 280, 152, 289 Annotation: Subtype: Link Rect: 34, 268, 76, 277 Annotation: Subtype: Link Rect: 34, 164, 96, 186 Annotation: Subtype: Link Rect: 125, 90, 154, 99 Annotation: Subtype: Link Rect: 34, 78, 149, 87 Annotation: Subtype: Link Rect: 34, 756, 176, 792 Annotation: Subtype: Link Rect: 515, 756, 560, 792 Annotation: Subtype: Link Rect: 113, 660, 124, 674 Annotation: Subtype: Link Rect: 262, 660, 273, 674 Annotation: Subtype: Link Rect: 525, 660, 536, 674 Annotation: Subtype: Link Rect: 128, 648, 139, 661 Annotation: Subtype: Link Rect: 228, 648, 239, 661 Annotation: Subtype: Link Rect: 199, 218, 206, 227 ActionDest: 159 Annotation: Subtype: Link Rect: 206, 218, 213, 227 ActionDest: 159 Annotation: Subtype: Link Rect: 346, 205, 353, 215 ActionDest: 159 Annotation: Subtype: Link Rect: 225, 155, 232, 164 ActionDest: 159 Annotation: Subtype: Link Rect: 320, 130, 327, 139 ActionDest: 159 Annotation: Subtype: Link Rect: 248, 105, 255, 114 ActionDest: 159 Annotation: Subtype: Link Rect: 256, 105, 263, 114 ActionDest: 159 Annotation: Subtype: Link Rect: 342, 92, 348, 102 ActionDest: 159 Annotation: Subtype: Link Rect: 126, 17, 264, 28 Annotation: Subtype: Link Rect: 423, 17, 560, 28 Annotation: Subtype: Link Rect: 34, 366, 87, 385 Page: Sequence: 2 Annotations: Annotation: Subtype: Link Rect: 239, 693, 246, 702 ActionDest: 159 Annotation: Subtype: Link Rect: 356, 618, 363, 627 ActionDest: 159 Annotation: Subtype: Link Rect: 203, 313, 210, 325 ActionDest: 68 Annotation: Subtype: Link Rect: 445, 163, 452, 175 ActionDest: 68 Annotation: Subtype: Link Rect: 474, 163, 481, 175 ActionDest: 71 Page: Sequence: 3 Annotations: Annotation: Subtype: Link Rect: 435, 741, 443, 753 ActionDest: 71 Page: Sequence: 4 Annotations: Annotation: Subtype: Link Rect: 414, 118, 421, 127 ActionDest: 159 Annotation: Subtype: Link Rect: 354, 68, 361, 76 ActionDest: 159 Page: Sequence: 5 Annotations: Annotation: Subtype: Link Rect: 329, 731, 336, 740 ActionDest: 159 Annotation: Subtype: Link Rect: 304, 706, 311, 715 ActionDest: 159 Annotation: Subtype: Link Rect: 527, 693, 534, 702 ActionDest: 159 Annotation: Subtype: Link Rect: 513, 668, 525, 677 ActionDest: 159 Annotation: Subtype: Link Rect: 473, 643, 485, 652 ActionDest: 159 Annotation: Subtype: Link Rect: 470, 618, 482, 627 ActionDest: 159 Annotation: Subtype: Link Rect: 513, 580, 525, 589 ActionDest: 159 Annotation: Subtype: Link Rect: 434, 518, 446, 526 ActionDest: 159 Annotation: Subtype: Link Rect: 478, 455, 485, 464 ActionDest: 159 Annotation: Subtype: Link Rect: 485, 455, 492, 464 ActionDest: 159 Annotation: Subtype: Link Rect: 493, 455, 505, 464 ActionDest: 159 Annotation: Subtype: Link Rect: 268, 304, 275, 313 ActionDest: 159 Annotation: Subtype: Link Rect: 297, 279, 309, 288 ActionDest: 159 Annotation: Subtype: Link Rect: 356, 214, 363, 226 ActionDest: 71 Annotation: Subtype: Link Rect: 319, 166, 331, 175 ActionDest: 159 Annotation: Subtype: Link Rect: 217, 141, 224, 150 ActionDest: 159 Annotation: Subtype: Link Rect: 224, 141, 236, 150 ActionDest: 159 Annotation: Subtype: Link Rect: 228, 103, 240, 112 ActionDest: 159 Annotation: Subtype: Link Rect: 441, 91, 448, 100 ActionDest: 159 Annotation: Subtype: Link Rect: 449, 91, 461, 100 ActionDest: 159 Annotation: Subtype: Link Rect: 523, 78, 535, 87 ActionDest: 159 Page: Sequence: 6 Annotations: Annotation: Subtype: Link Rect: 395, 731, 407, 740 ActionDest: 159 Annotation: Subtype: Link Rect: 280, 691, 287, 703 ActionDest: 82 Annotation: Subtype: Link Rect: 307, 691, 314, 703 ActionDest: 82 Annotation: Subtype: Link Rect: 548, 665, 555, 677 ActionDest: 129 Page: Sequence: 7 Annotations: Annotation: Subtype: Link Rect: 192, 453, 204, 462 ActionDest: 159 Annotation: Subtype: Link Rect: 205, 453, 217, 462 ActionDest: 159 Annotation: Subtype: Link Rect: 234, 428, 246, 437 ActionDest: 159 Annotation: Subtype: Link Rect: 391, 303, 403, 312 ActionDest: 159 Annotation: Subtype: Link Rect: 549, 127, 556, 136 ActionDest: 159 Page: Sequence: 8 Annotations: Annotation: Subtype: Link Rect: 498, 741, 505, 753 ActionDest: 71 Page: Sequence: 9 Annotations: Annotation: Subtype: Link Rect: 59, 704, 96, 715 Annotation: Subtype: Link Rect: 102, 704, 138, 715 Annotation: Subtype: Link Rect: 431, 680, 560, 691 Annotation: Subtype: Link Rect: 56, 669, 134, 680 Annotation: Subtype: Link Rect: 354, 657, 391, 668 Annotation: Subtype: Link Rect: 398, 657, 434, 668 Annotation: Subtype: Link Rect: 214, 612, 251, 622 Annotation: Subtype: Link Rect: 258, 612, 294, 622 Annotation: Subtype: Link Rect: 59, 578, 96, 588 Annotation: Subtype: Link Rect: 102, 578, 138, 588 Annotation: Subtype: Link Rect: 59, 555, 96, 565 Annotation: Subtype: Link Rect: 102, 555, 138, 565 Annotation: Subtype: Link Rect: 131, 532, 168, 542 Annotation: Subtype: Link Rect: 175, 532, 211, 542 Annotation: Subtype: Link Rect: 59, 497, 96, 507 Annotation: Subtype: Link Rect: 102, 497, 138, 507 Annotation: Subtype: Link Rect: 59, 474, 96, 484 Annotation: Subtype: Link Rect: 102, 474, 138, 484 Annotation: Subtype: Link Rect: 59, 451, 96, 461 Annotation: Subtype: Link Rect: 102, 451, 138, 461 Annotation: Subtype: Link Rect: 204, 416, 242, 427 Annotation: Subtype: Link Rect: 248, 416, 284, 427 Annotation: Subtype: Link Rect: 122, 394, 160, 404 Annotation: Subtype: Link Rect: 166, 394, 202, 404 Annotation: Subtype: Link Rect: 165, 370, 203, 381 Annotation: Subtype: Link Rect: 209, 370, 245, 381 Annotation: Subtype: Link Rect: 104, 336, 142, 346 Annotation: Subtype: Link Rect: 148, 336, 184, 346 Annotation: Subtype: Link Rect: 218, 313, 255, 323 Annotation: Subtype: Link Rect: 262, 313, 298, 323 Annotation: Subtype: Link Rect: 280, 278, 318, 289 Annotation: Subtype: Link Rect: 324, 278, 360, 289 Annotation: Subtype: Link Rect: 199, 256, 237, 266 Annotation: Subtype: Link Rect: 243, 256, 279, 266 Annotation: Subtype: Link Rect: 59, 221, 96, 231 Annotation: Subtype: Link Rect: 102, 221, 138, 231 Annotation: Subtype: Link Rect: 358, 197, 396, 208 Annotation: Subtype: Link Rect: 402, 197, 438, 208 Annotation: Subtype: Link Rect: 147, 164, 184, 174 Annotation: Subtype: Link Rect: 191, 164, 227, 174 Checksum: 3fd3f609 Type: CRC32 Checksum: acc601121c7e441edc5f59745e4d6fd9 Type: MD5 Checksum: ef7f184addac6cd88cea4b93ce8114c255d912e9 Type: SHA-1 Checksum: a48cfda645b6ad287ff8bbb918edf8089dbb2ab241471ddac4cbf66bc55e7a79 Type: SHA-256