A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant

Irena Jankowska; Joanna Pawłowska; Marek Szymczak; Hor Ismail; Dorota Broniszczak; Joanna Cielecka-Kuszyk; Piotr Socha; Dorota Jarzębicka; Piotr Czubkowski

doi:10.12659/AJCR.932374

20 July 2021 : Case report Poland

A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant

Unusual clinical course, Unusual or unexpected effect of treatment, Rare disease, Congenital defects / diseases

Irena Jankowska^1ABCDEF, Joanna Pawłowska^1ACDE, Marek Szymczak^2BDE, Hor Ismail^2BDE, Dorota Broniszczak^2BDE, Joanna Cielecka-Kuszyk^3BCE, Piotr Socha^1ACDE, Dorota Jarzębicka^1BDEF*, Piotr Czubkowski^1ABCDEF

DOI: 10.12659/AJCR.932374

Am J Case Rep 2021; 22:e932374

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Table 1. Patient 1. ATP8B1 NM_005603.4: C.2097+2T>C.

	6 weeks of age	4 months of age	7 months of age	7 days after PEBD	1 month after PEBD	3 months after PEBD	6 months after PEBD	8 months after PEBD
Weight (kg) [percentile]	4.5 [10–25c]	5.6 [3c]	6.67 [<3c]	6.77 [<3c]	6.8 [<3c]	7.8 [3–10c]	9.1 [25c]	9.3 [10–25c]
Height (cm) [percentile]	57 [25c]	59 [<3c]	62 [<3c]	62 [<3c]	63 [<3c]	73 [25–50c]	74 [10c]	75 [3–10c]
Diarrhea	–	–	–	–	–	–	–	–
Pruritus	–	+++	++++	++	–	–	+	++++
TB (mg/dl)	8.84	1.82	14.89	5.47	0.87	10.91	10.29	10.84
DB (mg/dl)	3.84	1.58	12.63	5.04	ND	9.82	9.41	9.89
BA (mmol/l)	94.5	278	395	25.1	7	196	189.5	90.2
ALT (U/l)	24	49	49	37	20	44	57	60
AST (U/l)	57	70	126	88	47	73	86	112
GGTP (U/l)	27	23	39	52	14	15	16	16
Albumin (g/l)	3.77	ND	3.72	ND	ND	4.16	4.03	3.19
INR	ND	1.34	1.41	1.36	ND	1.03	0.92	0.98
Albumin: N 38–54 g/l; ALT: N ^* according Whitington [].
		3 months after LTx	6 months after LTx	4 months	7 months	5 years after LTX
Weight (kg) [percentile]		9.5 [3–10c]	9.5 [<3c]	13.7 [25c]	14.4 [25–50c]	21 [25–50c]
Height (cm) [percentile]		78 [3c]	80 [<3c]	91 [3c]	92 [3c]	114.2 [10–25c]
Diarrhea		++++	+++++	Relief from diarrhoea
Pruritus		–	–	–	–	–
TB (mg/dl)		0.33	0.31	0.73	0.61	0.88
DB (mg/dl)		0.18	0.16	0.31	0.29	0.41
BA (mmol/l)		31.1	17	3.2	3.4	3.2
ALT (U/l)		135	175	65	70	57
AST (U/l)		116	143	69	80	83
GGTP (U/l)		64	67	62	72	105
Albumin (g/l)		3.79	3.26	4.1	3.9	3.88
INR		1.17	1.13	1.31	1.64	1.26
Albumin: N 38–54 g/l; ALT: N ^* according Whitington [].

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A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant

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