Orphanet Journal of Rare Diseases

Table 3 Features of liver disease before and after cholic acid therapy in 16 children with ∆⁴-3-oxo-R

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

Patient	Clinical features			Findings on abdominal US
Patient	At UDCA initiation	At CA initiation	At last follow-up	At CA initiation	At last follow-up
A1	Jaundice, HMG	Jaundice, HSM	Normal	HMG	Normal
A2	Jaundice, HSM ascites	Jaundice, HSM ascites	Normal	HSM ascites	Normal
B1	Jaundice, HMG	HMG	Normal	Normal	Normal
C1	Jaundice, HMG	HMG	Normal	Normal	Normal
D1	Normal	Normal	Normal	Normal	Normal
D2	NA^a	Normal	Normal	Normal	Normal
E1	Jaundice, HMG	HSM	HSM	HSM	HSM
F1	Jaundice	Jaundice	Normal	SMG	Normal
F2	Jaundice	Normal	Normal	–	Normal
G1	Jaundice	Jaundice	Normal	Normal	Normal
H1	Jaundice, HMG	HMG	Normal	Normal	Normal
I1	Jaundice	Jaundice	Normal	Normal	Normal
J1	Jaundice, HMG	HMG	Normal	HMG	Normal
K1	Jaundice, HSM	Jaundice, HMG	Normal	–	Normal
L1	Jaundice	Jaundice, SMG	Normal	SMG	Normal
M1	Jaundice	Jaundice	Normal	Normal	Normal

^aPatient D2 did not receive oral UDCA therapy. – indicates missing data. CA cholic acid, HMG hepatomegaly, HSM hepatosplenomegaly, NA not applicable, SMG splenomegaly, UDCA ursodeoxycholic acid, US ultrasonography

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ISSN: 1750-1172

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