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Abstract: TH-PO480

Genotype-Phenotype Correlations in Alport Syndrome: A Single-Center Experience

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic


  • Lujinschi, Stefan Nicolaie, Fundeni Clinical Institute, Bucharest, Romania
  • Obrisca, Bogdan, Fundeni Clinical Institute, Bucharest, Romania
  • Sorohan, Bogdan, Fundeni Clinical Institute, Bucharest, Romania
  • Jurubita, Roxana Adriana, Fundeni Clinical Institute, Bucharest, Romania
  • Vornicu, Alexandra, Fundeni Clinical Institute, Bucharest, Romania
  • Ismail, Gener, Fundeni Clinical Institute, Bucharest, Romania

Alport syndrome is a common and heterogeneous genetic kidney disease, oftentimes leading to end-stage kidney disease (ESKD). Due to the growing availability of genetic testing, understanding the interplay between genetic and clinical features has become essential for individualized prognostication.


This is a single-center, retrospective study that included 36 adults with type IV collagen mutations. Our scope was to describe how genetic features influence renal survival, i.e., the age at renal replacement therapy initiation.


A total of 28 different mutations were identified, out of which 8 had not been previously described. Mutations affecting each of the type IV collagen α chains were equally prevalent (33.3%). Six patients had multiple mutations. One patient had mutations involving all α chains. Five patients also had mutations involving podocyte and glomerular basement membrane proteins, but with no significant differences regarding proteinuria and renal survival. Most patients had a family history of kidney disease (71%). The most prevalent clinical picture was nephritic syndrome (64%), followed by isolated hematuria (24%). One third of the subjects had extrarenal manifestations, such as hearing loss (28.6%) and eye abnormalities (7.1%). There were no significant differences in laboratory findings at diagnosis between patients with COL4A3, COL4A4 and COL4A5 mutations. Eighteen patients presented with (41.6%) or later developed (8.3%) ESKD at a median age of 25.5 years old (IQR, 21.5-37.25). Six patients underwent kidney transplant. Overall kidney survival was 40.55 years (95% CI, 35.55-45.55). COL4A4 group displayed a significantly better renal survival when compared to COL4A3 (p=0.027). Hearing loss was associated with a significantly poorer renal prognosis (p<0.001). For a subgroup where follow-up data were available (44.4%), the 5-year renal survival was 68.6% and in patients with multiple mutations, a lower renal survival at 27 months was noticed (p=0.014).


In our study, COL4A3 mutations, presence of multiple mutations and a personal history of hearing loss were associated with a poorer renal prognosis.