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. 2021 Dec 10;8:795216. doi: 10.3389/fmed.2021.795216

Table 1.

Publications reporting cases with TTC21B p209L mutation.

References No. of patients Phenotype Renal histology
Doreille et al. (11) 6 CKD (n = 7), history of hypertensive emergency
(n = 5), hepatic involvement (n = 5)
Vascular lesions (n = 6), TMA (n = 4), no tubule-interstitial lesions or FSGS founded.
Cong et al. (5) 18 CKD (n = 18), proteinuria (n = 16), hypertension
(n = 15), hepatic involvement (n = 2), cerebral aneurism (n = 2), myopia (n = 1)
FSGS (n = 10), tubulointerstitial fibrosis (n = 10)
Bullich et al. (6) 3 CKD (n = 2), proteinuria (n = 3), hypertension
(n = 2), myopia (n = 2)
Global sclerosis (n = 1), FSGS (n = 2), Tubulointerstitial fibrosis (n = 3)