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NDT Advance Access originally published online on December 23, 2004
Nephrology Dialysis Transplantation 2005 20(3):545-551; doi:10.1093/ndt/gfh617
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© The Author [2005]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Original Article

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis—a collaborative study of the Italian Renal Immunopathology Group

Giovanni M. Frascà1,10, Andrea Onetti-Muda2, Francesca Mari3, Ilaria Longo3, Elisa Scala3, Chiara Pescucci3, Dario Roccatello4, Mirella Alpa4, Rosanna Coppo5, Giovanni Li Volti6, Sandro Feriozzi7, Franco Bergesio8, Francesco P. Schena9 and Alessandra Renieri3

1 U.O. di Nefrologia, Dialisi e Trapianto Renale, Ospedale S. Orsola, Bologna, 2 Dipartimento di Medicina Sperimentale e Patologia, Università ‘La Sapienza’, Rome, 3 Genetica Medica, Dipartimento di Biologia Molecolare, Università di Siena, Siena, 4 CMID, Osp. L. Einaudi e U.O. Nefrologia e Immunologia C.I.O.V e Dipartimento Medicina e Oncologia Sperimentale, Università di Torino, Turin, 5 Divisione di Nefrologia e Dialisi, Ospedale Regina Margherita, Turin, 6 Dipartimento di Pediatria, Università di Catania, 7 Divisione di Nefrologia e Dialisi, Viterbo, 8 U.O. di Nefrologia, Dialisi e Trapianto, Ospedale Careggi, Florence 9 Divisione di Nefrologia, Dialisi e Trapianto, Policlinico, Bari, and 10 Nephrology and Dialysis Unit-Umberto I Hospital - V. Conca 71-60020, Ancona, Italy.

Correspondence and offprint requests to: Giovanni M. Frascà, MD, Nephrology, Dialysis and Renal Transplantation Unit, St Orsola University Hospital, V. Massarenti 9, 40137 Bologna, Italy. E-mail: frasca{at}orsola-malpighi.med.unibo.it

Background. Thin glomerular basement membrane disease (TBMD) is a nephropathy defined by diffuse thinning of the glomerular basement membrane (GBM) at electron microscopy examination, without the alterations of Alport's syndrome (ATS). It is known that many patients with TBMD have a type IV collagen disorder and that the disease occasionally may be progressive. This study investigated 51 patients with the morphological diagnosis of TBMD lacking any sign of ATS, with the aim of defining the prevalence of type IV collagen mutations and the course of the disease.

Methods. Patients were investigated as follows: (a) clinical picture and family investigation; (b) renal biopsy findings; (c) immunohistochemical study of renal tissue for collagen IV {alpha}-chains; (d) pedigree reconstruction and molecular investigations in genes encoding type IV collagen chains, when DNA samples were available; and (e) follow-up data.

Results. Renal biopsy analysis revealed no light microscopy changes in 27 patients and minimal abnormalities in the remainder. Global glomerular sclerosis was found in seven cases and superimposed mesangial immunoglobulin-A deposits in four. Normal staining of GBM for {alpha}(IV) chains was observed in all but one patient, where {alpha}5(IV) was absent and molecular investigation revealed a COL4A5 mutation. Five out of 25 cases had a mutation in the COL4A3/COL4A4 genes. Eight out of 38 patients followed up for 12–240 months (21%) showed signs of disease progression or hypertension.

Conclusions. This study confirms that a considerable proportion of patients with TBMD have a type IV collagen disorder and that this lesion is not always benign. Thus, families should be investigated carefully whenever possible and patients and affected relatives should be examined periodically for signs of disease progression.

Keywords: Alport's syndrome; benign familial haematuria; COL4A3; COL4A4; mutations; thin basement membrane disease


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