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Table 5 Liver fibrosis evaluation before and after cholic acid CA therapy in children with Δ4-3-oxo-R deficiency

From: ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Patients

At CA initiation

At last follow-up

Liver biopsya

Elastographyb

Liver biopsya (duration of CA therapy)

Elastographyb (duration of CA therapy)

A1

F3

–

F1/F2 (17y)

SSI (24y):

5.5 kPa (F0)

A2

F4

–

F3 (17y)

SSI (24y):

7.6 kPa (F1)

B1

–

SSI:

12.5 kPa (F4)

–

SSI (3y):

6.2 kPa (F0)

C1

F1

–

–

SSI (9y):

5.5 kPa (F0)

D1

F0

TE:

7.0 kPa (F1)

–

TE (2y):

3.2 kPa (F0)

D2

F0

TE:

3.1 kPa (F0)

–

TE (1y):

3.6 kPa (F0)

E1

F2

TE:

5.6 kPa (F0)

–

TE (3.5y):

4.7 kPa (F0)

F1

F1

SSI:

5.5 kPa (F0)

–

SSI (5y):

5.7 kPa (F0)

F2

–

SSI:

3.1 kPa (F0)

–

SSI (3y):

4.5 kPa (F0)

G1*

F0

–

–

 

–

J1

F1

–

F1 (14y)

 

–

M1

F2

–

F1 (5.5y)

 

–

  1. aMetavir score stages fibrosis from F0 (absence of fibrosis) to F4 (cirrhosis)
  2. bThe methods of analysis (TE vs. SSI) are indicated and equivalence for fibrosis Metavir score is provided, based on [12]. *No evaluation of fibrosis was performed in the follow-up, but this patient displayed normal clinical examination and normal serum liver tests at last follow-up. – indicates missing value. CA cholic acid, SSI shear stress imaging, TE transient elastography
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172