Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?
Case Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemi...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2014-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/832592 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832553499405058048 |
|---|---|
| author | Lisa Giovannini Carlo Donadio |
| author_facet | Lisa Giovannini Carlo Donadio |
| author_sort | Lisa Giovannini |
| collection | DOAJ |
| description | Case Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. After five years from biopsy, 24-hours proteinuria was still around 1–1.3 g/die; renal function was still normal (eGFR 107 ml/min/1.73 m2). These data are against the previous diagnosis of primary FSGS. We hypothesize that genetic thrombophilia may explain all the clinical signs of our patient. Conclusions. Alterations in genes of thrombophilia should be ruled out in patients with bioptic diagnosis of “primary” FSGS, in particular if clinically atypical. |
| format | Article |
| id | doaj-art-c5ac83f06db34a3a88b85dab61ea3d0f |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-c5ac83f06db34a3a88b85dab61ea3d0f2025-02-03T05:53:57ZengWileyCase Reports in Medicine1687-96271687-96352014-01-01201410.1155/2014/832592832592Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?Lisa Giovannini0Carlo Donadio1Department of Clinical & Experimental Medicine, School of Nephrology, University of Pisa, Via Paradisa 2, 56100 Pisa, ItalyDepartment of Clinical & Experimental Medicine, School of Nephrology, University of Pisa, Via Paradisa 2, 56100 Pisa, ItalyCase Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. After five years from biopsy, 24-hours proteinuria was still around 1–1.3 g/die; renal function was still normal (eGFR 107 ml/min/1.73 m2). These data are against the previous diagnosis of primary FSGS. We hypothesize that genetic thrombophilia may explain all the clinical signs of our patient. Conclusions. Alterations in genes of thrombophilia should be ruled out in patients with bioptic diagnosis of “primary” FSGS, in particular if clinically atypical.http://dx.doi.org/10.1155/2014/832592 |
| spellingShingle | Lisa Giovannini Carlo Donadio Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? Case Reports in Medicine |
| title | Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? |
| title_full | Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? |
| title_fullStr | Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? |
| title_full_unstemmed | Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? |
| title_short | Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? |
| title_sort | fingertips ischemia nephroangiosclerosis and focal segmental glomerulosclerosis is genetic thrombophilia the unique explanation |
| url | http://dx.doi.org/10.1155/2014/832592 |
| work_keys_str_mv | AT lisagiovannini fingertipsischemianephroangiosclerosisandfocalsegmentalglomerulosclerosisisgeneticthrombophiliatheuniqueexplanation AT carlodonadio fingertipsischemianephroangiosclerosisandfocalsegmentalglomerulosclerosisisgeneticthrombophiliatheuniqueexplanation |