Universität zu Köln

Schurek, Hans-Joachim, Maisel, Peter, Helmchen, Udo, Reusch, Bjoern and Pekrun, Arnulf (2022). Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome? Case Rep. Nephrol. Dial., 12 (3). S. 226 - 234. BASEL: KARGER. ISSN 2296-9705

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schurek, Hans-Joachim UNSPECIFIED UNSPECIFIED UNSPECIFIED Maisel, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Helmchen, Udo UNSPECIFIED UNSPECIFIED UNSPECIFIED Reusch, Bjoern UNSPECIFIED UNSPECIFIED UNSPECIFIED Pekrun, Arnulf UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-687794
DOI:	10.1159/000527330
Journal or Publication Title:	Case Rep. Nephrol. Dial.
Volume:	12
Number:	3
Page Range:	S. 226 - 234
Date:	2022
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	2296-9705
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ROOT GANGLION STIMULATION; RENAL AUTOTRANSPLANTATION; DENERVATION; DISEASE Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/68779