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Table 1 Clinical features of patients 1–5

From: Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

Clinical features

Patient

1

2

3

4

5

Ethnic group

Han

Han

Han

Miao

Han

Consanguineous parents

No

No

No

Yes

No

Birth weight (SDS)

−0.08

0.69

−0.85

NA

0.44

Age, initial RALF episode

6mo18d

7mo21d

6mo1d

6y10mo

2y2mo

Age at last assessment

6y11mo

4y8mo

2y4mo

12y11mo

4y8mo

Episodes of ALF

5

1

10

1

1

Episodes of liver crisis without ALF

3

2

1

1

4

Age at last ALF

6y11mo

2y2mo

2y4mo

6y10mo

2y2mo

Age at last liver crisis

3y1mo

4y1mo

1y7mo

9y1mo

3y10mo

Febrile illness before each episode of RALF

+

+

+

Hepatomegaly

+

+

+

+

+

Splenomegaly

+

+

+

+

+

Hepatomegaly between episodes/crises

+

NA

+

Splenomegaly between episodes/crises

NA

+

Body length (SDS)

−1.42

−1.47

0.31

−1.34

1.66

Age at LBX

5y11mo

2y3mo

6mo13d

9y1mo

3y10mo

Clinical status at LBX

During 7th crisis (DS)

After 2nd crisis

During 1st crisis (DS)

During 2nd crisis (DS)

During 5th crisis (DS)

ALT /AST (IU/L) at LBX

1091/307

27/12

200/24

43/22

84/48

Results of LBX

Steatosis

Centrilobular fibrosis

Steatosis; centrilobular fibrosis

Unremarkable

Inflammation

NBAS mutations

c.6611_6612insCA + c.3596G > A

c.3596G > A + c.586C > T

c.5389 + 1G > T + c.2407G > A

  1. NA Not available, RALF Recurrent acute liver failure, ALF Acute liver failure, ALT Alanine transaminase (expected range 0–40 IU/L), AST Aspartate transaminase (expected range, 0–40 IU/L), LBX Liver biopsy, DS Downswing (resolution of crisis), SDS Standard deviation score. y Year, mo Month, d Day. All probands were male. All were born at term. None was dysmorphic. Patient 3 suffered from recurrent infections; immunologic evaluation identified no specific deficiency. Clinical-biochemistry evidence of hepatobiliary injury was seen in none between liver crises or bouts of ALF