Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?
A 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain attacks accompanied by macrohaematuria. In renal biopsy, the preglomerular vessels showed segmental wall hyalinosis in the sense of low-grade nephrosclerosis, and glomerular capillaries with slightly...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2022-11-01
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| Series: | Case Reports in Nephrology and Dialysis |
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| Online Access: | https://www.karger.com/Article/FullText/527330 |
| _version_ | 1811206080467828736 |
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| author | Hans-Joachim Schurek Peter Maisel Udo Helmchen Björn Reusch Arnulf Pekrun |
| author_facet | Hans-Joachim Schurek Peter Maisel Udo Helmchen Björn Reusch Arnulf Pekrun |
| author_sort | Hans-Joachim Schurek |
| collection | DOAJ |
| description | A 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain attacks accompanied by macrohaematuria. In renal biopsy, the preglomerular vessels showed segmental wall hyalinosis in the sense of low-grade nephrosclerosis, and glomerular capillaries with slightly but diffusely thickened, non-split basal membranes on electron microscopy. Notable were irregularly deformed, different dense erythrocytes in the glomerular capillaries, and several tubular lumina. The suspicion of erythrocytic enzyme deficiency could be confirmed. The enzyme activities of the erythrocytes were predominantly normal or slightly increased; only the activity of triosephosphate isomerase, a critical key enzyme of glycolysis, was reduced to 71% (resp. 57%) of the normal level, compatible with a heterozygous carrier status that could not be found. Patients with genomic triosephosphate-isomerase deficiency have degraded enzyme activities in virtually all tissues, such as leucocytes, platelets, and muscle cells. An association with neuromuscular symptoms is also known. Thus, it is possible that smooth muscle and intrarenal vascular spasms trigger clinical symptoms consisting of flank pain and phases of macrohaematuria. An aspirin-like defect (thrombocytopathy) had previously been found in connection with epistaxis (also due to TPI deficiency?). Enalapril treatment drastically reduced the frequency of macrohaematuria and pain attacks decreased to a lesser extent. |
| first_indexed | 2024-04-12T03:41:55Z |
| format | Article |
| id | doaj.art-3c44f4d92ba44702ab8832357ac5264f |
| institution | Directory Open Access Journal |
| issn | 2296-9705 |
| language | English |
| last_indexed | 2024-04-12T03:41:55Z |
| publishDate | 2022-11-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Nephrology and Dialysis |
| spelling | doaj.art-3c44f4d92ba44702ab8832357ac5264f2022-12-22T03:49:15ZengKarger PublishersCase Reports in Nephrology and Dialysis2296-97052022-11-0112322623310.1159/000527330527330Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?Hans-Joachim SchurekPeter MaiselUdo HelmchenBjörn Reuschhttps://orcid.org/0000-0002-8963-6835Arnulf PekrunA 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain attacks accompanied by macrohaematuria. In renal biopsy, the preglomerular vessels showed segmental wall hyalinosis in the sense of low-grade nephrosclerosis, and glomerular capillaries with slightly but diffusely thickened, non-split basal membranes on electron microscopy. Notable were irregularly deformed, different dense erythrocytes in the glomerular capillaries, and several tubular lumina. The suspicion of erythrocytic enzyme deficiency could be confirmed. The enzyme activities of the erythrocytes were predominantly normal or slightly increased; only the activity of triosephosphate isomerase, a critical key enzyme of glycolysis, was reduced to 71% (resp. 57%) of the normal level, compatible with a heterozygous carrier status that could not be found. Patients with genomic triosephosphate-isomerase deficiency have degraded enzyme activities in virtually all tissues, such as leucocytes, platelets, and muscle cells. An association with neuromuscular symptoms is also known. Thus, it is possible that smooth muscle and intrarenal vascular spasms trigger clinical symptoms consisting of flank pain and phases of macrohaematuria. An aspirin-like defect (thrombocytopathy) had previously been found in connection with epistaxis (also due to TPI deficiency?). Enalapril treatment drastically reduced the frequency of macrohaematuria and pain attacks decreased to a lesser extent.https://www.karger.com/Article/FullText/527330aspirin-like thrombocytopathysuspected genetic defectloin pain haematuria syndrometriosephosphate-isomerase deficiency |
| spellingShingle | Hans-Joachim Schurek Peter Maisel Udo Helmchen Björn Reusch Arnulf Pekrun Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? Case Reports in Nephrology and Dialysis aspirin-like thrombocytopathy suspected genetic defect loin pain haematuria syndrome triosephosphate-isomerase deficiency |
| title | Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? |
| title_full | Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? |
| title_fullStr | Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? |
| title_full_unstemmed | Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? |
| title_short | Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? |
| title_sort | triosephosphate isomerase deficiency epiphenomenon or cause of loin pain haematuria syndrome |
| topic | aspirin-like thrombocytopathy suspected genetic defect loin pain haematuria syndrome triosephosphate-isomerase deficiency |
| url | https://www.karger.com/Article/FullText/527330 |
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