Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1
Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5. Affected males typically develop low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and other symptoms. Kidney failure ofte...
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Frontiers Media S.A.
2024-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1428720/full |
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| author | Nicolette Murphey Craig Authement Paul Hillman Samhar I. Al-Akash Kate Richardson |
| author_facet | Nicolette Murphey Craig Authement Paul Hillman Samhar I. Al-Akash Kate Richardson |
| author_sort | Nicolette Murphey |
| collection | DOAJ |
| description | Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5. Affected males typically develop low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and other symptoms. Kidney failure often occurs between the third to fifth decade of life. Here, we report an 11-year-old boy with Dent 1 and a severe kidney disease phenotype. The patient presented with flank pain, nocturnal enuresis, foamy urine, and increased urinary frequency. He was found to have nephrotic-range proteinuria, without hypoalbuminemia, and a significantly decreased estimated glomerular filtration rate at presentation. Further, he did not have hypercalciuria. His family history was remarkable for kidney disease among several relatives including a maternal half-brother and two sons of a maternal great aunt. Due to his symptoms and a strong family history, the patient underwent genetic testing that detected a novel pathogenic variant in CLCN5 [c.791dup (p.Ser265Glnfs*3)]. Given the variability of symptoms among family members and the early onset of severe symptoms in this young patient compared to prior literature, we encourage genetic testing for Dent disease in similarly affected individuals. |
| format | Article |
| id | doaj-art-fc8f7115dfae43a7a73263b0cc3d6a7f |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-fc8f7115dfae43a7a73263b0cc3d6a7f2024-11-14T04:45:22ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-11-011210.3389/fped.2024.14287201428720Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1Nicolette Murphey0Craig Authement1Paul Hillman2Samhar I. Al-Akash3Kate Richardson4Genetic Counseling Program, University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, United StatesDepartment of Pediatrics, Division of Pediatric Nephrology & Hypertension, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, United StatesDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children’s Memorial Hermann Hospital, Houston, TX, United StatesDepartment of Pediatrics, Division of Pediatric Nephrology & Hypertension, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, United StatesDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children’s Memorial Hermann Hospital, Houston, TX, United StatesDent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5. Affected males typically develop low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and other symptoms. Kidney failure often occurs between the third to fifth decade of life. Here, we report an 11-year-old boy with Dent 1 and a severe kidney disease phenotype. The patient presented with flank pain, nocturnal enuresis, foamy urine, and increased urinary frequency. He was found to have nephrotic-range proteinuria, without hypoalbuminemia, and a significantly decreased estimated glomerular filtration rate at presentation. Further, he did not have hypercalciuria. His family history was remarkable for kidney disease among several relatives including a maternal half-brother and two sons of a maternal great aunt. Due to his symptoms and a strong family history, the patient underwent genetic testing that detected a novel pathogenic variant in CLCN5 [c.791dup (p.Ser265Glnfs*3)]. Given the variability of symptoms among family members and the early onset of severe symptoms in this young patient compared to prior literature, we encourage genetic testing for Dent disease in similarly affected individuals.https://www.frontiersin.org/articles/10.3389/fped.2024.1428720/fullDent disease type 1 (Dent 1)CLCN5 genechronic kidney diseasekidney failuregeneticproteinuria |
| spellingShingle | Nicolette Murphey Craig Authement Paul Hillman Samhar I. Al-Akash Kate Richardson Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 Frontiers in Pediatrics Dent disease type 1 (Dent 1) CLCN5 gene chronic kidney disease kidney failure genetic proteinuria |
| title | Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 |
| title_full | Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 |
| title_fullStr | Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 |
| title_full_unstemmed | Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 |
| title_short | Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 |
| title_sort | case report early acute kidney failure in an 11 year old boy with dent disease type 1 |
| topic | Dent disease type 1 (Dent 1) CLCN5 gene chronic kidney disease kidney failure genetic proteinuria |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1428720/full |
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