A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study
AbstractBackground: Autosomal dominant polycystic kidney disease (ADPKD) is an autosomal dominant renal cyst disorder due to mutations in genes coding for polycystin1 [PKD1 (85%-90% of cases), on ch 16p13.3] and polycystin 2 [PKD2 (10%-15% of cases), on ch 4q13-23], and PKD3 gene (gene unmapped). It...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2015-10-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fped.2015.00082/full |
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| author | Tetiana eLitvinchuk Yunxia eTao Ruchi eSingh Tetyana eVasylyeva |
| author_facet | Tetiana eLitvinchuk Yunxia eTao Ruchi eSingh Tetyana eVasylyeva |
| author_sort | Tetiana eLitvinchuk |
| collection | DOAJ |
| description | AbstractBackground: Autosomal dominant polycystic kidney disease (ADPKD) is an autosomal dominant renal cyst disorder due to mutations in genes coding for polycystin1 [PKD1 (85%-90% of cases), on ch 16p13.3] and polycystin 2 [PKD2 (10%-15% of cases), on ch 4q13-23], and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited but new mutations without a family history occur in approximately 10% of the cases.Case presentation: A 17 y.o. boy was followed since he was a 13 y.o. for bilateral cystic kidney disease, hypertension and obesity. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. Performed a renal ultrasonogram also demonstrated a multiple bilateral cysts.Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602_1604; codon position: 512-513; mRNA reading frame maintained. The same mutation later was identified in father. Conclusion: A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are not known published cases on this familiar genetic variant of ADPKD2 cystic kidney disease. In this |
| first_indexed | 2024-12-13T00:22:14Z |
| format | Article |
| id | doaj.art-f3540f48534d4b4fbb58fb7bfa308865 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-13T00:22:14Z |
| publishDate | 2015-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-f3540f48534d4b4fbb58fb7bfa3088652022-12-22T00:05:32ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602015-10-01310.3389/fped.2015.00082153723A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case studyTetiana eLitvinchuk0Yunxia eTao1Ruchi eSingh2Tetyana eVasylyeva3Texas Tech Health Sciences CenterTexas Tech Health Sciences CenterTexas Tech Health Sciences CenterTexas Tech Health Sciences CenterAbstractBackground: Autosomal dominant polycystic kidney disease (ADPKD) is an autosomal dominant renal cyst disorder due to mutations in genes coding for polycystin1 [PKD1 (85%-90% of cases), on ch 16p13.3] and polycystin 2 [PKD2 (10%-15% of cases), on ch 4q13-23], and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited but new mutations without a family history occur in approximately 10% of the cases.Case presentation: A 17 y.o. boy was followed since he was a 13 y.o. for bilateral cystic kidney disease, hypertension and obesity. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. Performed a renal ultrasonogram also demonstrated a multiple bilateral cysts.Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602_1604; codon position: 512-513; mRNA reading frame maintained. The same mutation later was identified in father. Conclusion: A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are not known published cases on this familiar genetic variant of ADPKD2 cystic kidney disease. In thishttp://journal.frontiersin.org/Journal/10.3389/fped.2015.00082/fullkidney diseaseADPKDGenetic variantPKD3 genepolycystin 2 |
| spellingShingle | Tetiana eLitvinchuk Yunxia eTao Ruchi eSingh Tetyana eVasylyeva A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study Frontiers in Pediatrics kidney disease ADPKD Genetic variant PKD3 gene polycystin 2 |
| title | A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study |
| title_full | A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study |
| title_fullStr | A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study |
| title_full_unstemmed | A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study |
| title_short | A case of new familiar genetic variant of Autosomal Dominant Polycystic Kidney Disease -2: a case study |
| title_sort | case of new familiar genetic variant of autosomal dominant polycystic kidney disease 2 a case study |
| topic | kidney disease ADPKD Genetic variant PKD3 gene polycystin 2 |
| url | http://journal.frontiersin.org/Journal/10.3389/fped.2015.00082/full |
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