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

Table 4 Clinical characteristics of patients with monoallelic ABCB4 mutations (n = 10)

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	Disease status at last follow-up	Issues at last follow up/salient features	Final outcome at last follow- up
P17 (sibling of P3)	Female	180	180	No	Yes	0.73Z, 0.87Z	H	C	No	S	Screening detected	Alive
P18 (sibling of P15)	Female	5	17	No	Yes	-0.46Z	J, P, H	C	Not done	I	Infantile onset, self-limiting course	Alive
P19	Male	5	19	No	Yes	-2.33Z, -4.06Z	J, P, HSM	C	No varix	I	Infantile onset, self-limiting course	Alive
P20	Female	48	72	No	No	0.1Z, 0.1Z	J, P, H	C	No varix	I	Recurrent jaundice	Alive
P21	Male	1	3	No	No	-3.43Z, -2.15Z	J, P, HSM	C	No varix	I	Infantile onset, self-limiting course	Alive
P22	Male	8	8	No	No	-3.2Z, -2.54Z	J, P, HSM	C	No varix	I	Infantile onset, self-limiting course	Alive
P23	Male	144	192	No	No	-2.42Z, -3.33Z	J, P, HSM	C	Large varix	W	PH, B, A, E, MRCP-sclerosing cholangitis	Expired
P24	Female	48	108	No	No	-2.39Z, -3.34Z	J, P, HSM	C	Small varix	W	PH, E, SNHL, additional heterozygous mutations in GJB6 and SPTB (both autosomal dominant)	Expired
P25	Male	11	13	No	No	-0.34Z, -1.63Z	J, P, H	C	Not done	I	Infantile onset, self-limiting course	Alive
P26	Male	10	12	No	No	0.11Z, -0.04Z	J, P, HSM	C	No varix	I	Infantile onset, self-limiting course	Alive

Small and large varix as per Baveno VI guidelines. A: Ascites; B: Gastrointestinal bleed; C: Compensated; E: Encephalopathy; H: Hepatomegaly; HSM: Hepatosplenomegaly; I: Improved; J: Jaundice; P: Pruritis; PH: Portal Hypertension; S: Stable; SNHL: Sensorineural Hearing Loss; W: Worsened.