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Table 1 Clinical characteristics of affected family members

From: Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin

Individual/age

Genetic diagnosisa

Age at ESRD

Proteinuria (mg/g Crea)

S-creatinine (μmoL)/eGFR (ml/min/1.73 m2)

Renal biopsy/sonography

Index (III-2)

32 years

c.485 T > C

p.Leu162Pro

(het)

32

5700

222/15

NA/atrophic kidneys

Mother (II-1)

53 years

c.485 T > C

p.Leu162Pro

(het)

50

NA

>300/<15

NA/atrophic kidneys

Bother1 (III-1)

33 years

c.485 T > C

p.Leu162Pro

(het)

NA

1600

95/98

NA/normal kidneys

Brother2 (III-3)

28 years

c.485 T > C

p.Leu162Pro

(het)

NA

451

78/116

NA/normal kidneys

Brother3 (III-4)

20 year

c.485 T > C

p.Leu162Pro

(het)

NA

177

77/124

NA/normal kidneys

  1. ESRD end-stage renal disease, het heterozygous, NA not annotated, yr years
  2. acDNA mutations are numbered according to human cDNA reference sequence NM_022489.3 (INF2), where +1 corresponds to the A of ATG start translation codon