Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort

Table 2 Clinical characteristics of patients with biallelic ABCB4 mutations (n = 16)

Patient	Gender	Age at symptom onset (months)	Age at first presentation (months)	Consanguinity	Family history	Anthropometry (weight/height)	Clinical features	Disease status at presentation	Esophageal varix	Type of ABCB4 mutation	Disease status at last follow-up	Issues at last follow up	Final outcome at last follow-up
P1	Male	22	24	Yes	Yes	-0.34Z, -0.55Z	HSM	C	Small varix	Homozygous	S	PH	Alive
P2 (sibling of P1)	Male	6	60	Yes	Yes	0.21Z, -0.52Z	J, P, HSM	C	Large varix	Homozygous	S	PH	Alive
P3	Male	6	9	No	Yes	NA	HSM, P	C	No varix	Homozygous	W	PH, INR > 1.5	Alive
P4	Male	6	24	No	No	-1.42Z, -0.87Z	P, HSM	C	No varix	Homozygous	S		Alive
P5	Male	96	96	No	Yes	-0.17Z, 0.09Z	A, HSM	D	Large varix	Homozygous	S	PH, recurrent acute kidney injury and nephrotic range proteinuria	Alive
P6 (sibling of P5)	Female	168	172	No	Yes	-0.75Z, -1.11Z	J, P, A, HSM, E, B	D	Large varix	Homozygous	W	PH, INR > 1.5	Expired post LT (primary graft non-function)
P7	Male	120	120	Yes	Yes	-3.59Z, -2.70Z	J, P, A, HSM	C	Large varix	Homozygous	W	PH, INR > 1.5, E	Expired after 3 years of (LT (acute rejection)
P8	Female	58	60	No	No	0.06Z, -0.72Z	J, P, HSM, A, B	D	Small varix	Homozygous	W	INR > 1.5	Alive
P9	Female	6	48	No	Yes	-2.9Z, -2.72Z	J, P, HSM	C	Small varix	Homozygous	W	PH, E	Expired
P10 (sibling of P9)	Male	12	34	No	Yes	-2.5Z, -3.14Z	J, P, HSM	C	Large varix	Homozygous	W	PH	Alive
P11	Female	84	108	Yes	Yes	-0.02Z, -0.91Z	J, P, A, HSM	D	Small varix	Homozygous	W	PH, INR > 1.5, MRCP-sclerosing cholangitis	Expired
P12	Female	120	144	No	Yes	NA	J, HSM	C	Small varix	Homozygous	W	PH, B, INR > 1.5	Alive
P13	Male	60	60	Yes	Yes	-1.36Z, -3.46Z	J, A, HSM	D	Small varix	Homozygous	S		Alive
P14	Male	80	83	No	No	-0.77, 0.35	J, P	C	Large varix	Homozygous	W	PH, INR > 1.5	Alive
P15	Male	4	4	No	Yes	NA	J, HSM	C	Not done	Compound HET	W	PH, INR > 1.5, E, acute-on-chronic liver failure	Expired
P16	Male	50	52	No	No	-1.94Z, -3.07Z	P, HSM, A	D	No varix	Compound HET	S	Nephrotic range proteinuria (carries additional X-linked FLNA mutation)	Alive

Small and large varix as per Baveno VI guidelines. P3: Progression of portal hypertension (gastric varix), international normalised ratio > 1.5. P8, P13 and P15: Short follow-up (< 6 months). A: Ascites; B: Gastrointestinal bleed; C: Compensated; D: Decompensated; E: Encephalopathy; H: Hepatomegaly; HET: Heterozygous; HSM: Hepatosplenomegaly; INR: International normalised ratio; J: Jaundice; LT: Liver transplantation; NA: Not available; P: Pruritis; PH: Portal Hypertension; S: Stable; W: Worsened.