Table 1.

Clinical features of patients 1–5

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	−	−

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