COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Date
2018Author
Voskarides, KonstantinosPapagregoriou, Gregory
Hadjipanagi, Despina
Petrou, Ioanelli
Savva, Isavella
Elia, Avraam
Athanasiou, Yiannis
Pastelli, Androulla
Kkolou, Maria
Hadjigavriel, Michalis
Stavrou, Christoforos
Pierides, Alkis
Deltas, Constantinos
ISSN
1471-2369Source
BMC NephrologyVolume
19Issue
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Metadata
Show full item recordAbstract
About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD).