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. 2016 Dec 8;28(5):1614–1621. doi: 10.1681/ASN.2016040387

Table 1.

Clinical features of the affected individuals with MAGI2 mutations

Patient No. Sex Ethnicity Familial/Sporadic Age at Onset, mo Consanguinity Resistance to Steroids First Native Biopsy Second Native Biopsy CKD Stage Time to ESRF Tx? Disease Recurrence? Extrarenal Phenotype Treatment Used Most Recent Serum Creatinine, μmol/L Most Recent Albumin-to-Creatinine Ratio, mg/mmol Length of Follow-Up, yr
180 M W Sporadic 3 No Presumed MCD (28 mo) N/A 2 N/A No N/A Pyloric stenosis, single–digit postaxial polydactyly, thrombocytosis Enalapril, cyclosporin, tacrolimus, prednisolone, mycophenolate mofetil 32 83 (Serum albumin 17 g/L) 9.08
175 F W Familial 4 Yes Presumed Late Finnish–type CNS (22 mo) End stage of Finnish-type CNS (26 mo) Tx 1 yr, 9 mo Yes No No None 73 3.2 9.58
175S F W Familial 1 Yes Presumed N/A N/A 1 N/A N/A N/A Mild peripheral branch pulmonary stenosis, patent foramen ovale Captopril 24 2160 (Serum albumin 17 g/L) 2.33

ESRF, end stage renal failure; Tx, transplanted; M, boy; W, white; MCD, minimal change disease; N/A, not applicable; F, girl.