Journal of Regional Section of Serbian Medical Association in Zajecar

Year 2011     Vol 36     No 3
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      UDK 616-056.76-076

ISSN 0350-2899, 36(2011) br.3 p.162-65

Case report

The role of electron microscopy in the diagnosis of Alport syndroma - Case report
(Uloga elektronske mikroskopije u dijagnostici Alportovog sindroma - prikaz slučaja)

Milena Potić Floranović (1) , Jelena Rajković (1), Miloš Kostić (1), Miloš Bogoslović (2),
Branka Mitić (3), Vidojko Đorđević (3), Vojin Savić (1)

(1) Institut za biomedicinska istraživanja Medicinskog fakulteta u nišu, (2) Dom zdravlja Doljevac,
(3) Institut za nefrologiju i hemodijalizu Kliničkog centra u Nišu


Alport syndrome (AS) is a hereditary disease characterized by progressive hematuric nephritis, hearing loss and ocular changes. This genetically heterogeneous disease is caused by mutation of genes responsible for synthesis of collagen type IV. The signs and symptoms of AS are due to anomalies in basement membranes of renal, auditory and ocular systems 1. The most frequent form is X-linked dominant form of AS with milder symptoms among females, who are heterozygous carriers, than in male patients. The incidence of terminal renal insufficiency before 40 years of age is 80% in boys and men. AS patients are good candidates for renal transplantation.
The patient was examined as a potential organ donor for her son, who had been diagnosed with AS. The main clinical symptom in the mother was hearing impairment, but biochemical findings concerning renal function were normal, except microhaematuria. Tissue sample was obtained by percutaneus needle biopsy. Light microscopy showed non specific changes, and immunofluorescence was negative. Electron microscopy showed focal thinning and thickening of glomerular basement membrane, focal discontinuity and reticulation of lamina densa, dilatation and reticulation of lamina rara. These changes are associated with AS.
AS and other hereditary nephropathies cannot be properly diagnosed without the use of electron microscope, because it can detect and localize anomalies of the glomerular basement membrane, glomerular capillaries, mesangium, "foot projections of the podocytes, Bowman’s capsule and other tissue components.
X-linked AS is the most common hereditary cause of renal insufficiency. Living donor kidney transplantation from relatives, if the donor is heterozygous carrier, carries the risk for both the donor and the recipient. Although women have milder symptoms, the risk of developing end stage renal disease increases with age. This should be taken into consideration, since mothers of patients with AS often volunteer to be organ donors. Nephrectomy also increases the risk of developing end stage renal disease in women. Electron microscopy of the renal tissue can enable screening for potential donors among family members that are heterozygous carriers, with an otherwise normal renal function. In evaluating potential kidney donors detecting ultramicroscopic changes in kidney tissue should be regarded as the exclusion criterion
Key words: Alport syndrome, electron microscopy, renal transplantation

Napomena: kompletan tekst rada na srpskom jeziku
Note: full text in Serbian

      Corresponding Address:
Milena Potić Floranović
Medicinski fakultet, Niš
Institut za biomedicinska istraživanja
Paper received: 28.03.2011
Paper accepted: 12.04.2011
Paper Internet issues: 17.12.2011
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Timočki medicinski glasnik, Zdravstveni centar Zaječar
Journal of Regional section of Serbian medical association in Zajecar
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