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Table 1 Clinical and laboratory features of patients included in the study (n = 25)

From: Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis

Clinical feature Value in all patients studied (n = 25) Value in those with genomic variation (n = 9) Value in those without genomic variation (n = 16) p value (with genomic variation versus without genomic variation)
Age at presentation (months) 15 (1–144) 15 (3–144) 23 (1–48) 0.089
Age at onset of symptoms (months) 5 (0.25–138) 3.5 (0.25–138) 5 (0–18) 1.123
Male (number) 19 (76%) 7 12 1.000
History of consanguinity (number) 7 (28%) 5 2 0.058
History of cholestasis of pregnancy (number) 10 (40%) 3 7 0.691
Intense pruritus (number) 24 (96%) 8 16 0.360
History of skin bleeding (number) 17 (68%) 5 12 0.394
Jaundice (number) 25 (1) 9 16 1.000
Weight z scorea −2.08 (−3.55 to +0.32) − 2.35 (−3.55 to +0.32) −1.98 (−3.52 to +0.21) 0.205
Height z scoreb − 1.63 (−5.62 to +2.26) −1.55 (−4.75 to +0.2) −1.73 (−5.62 to +2.26) 0.478
Palpable liver below right costal margin (cm)c 4 (1–8) 3 (2–8) 4 (1–7) 0.790
Palpable spleen below left costal margin (cm)d 2 (1–5) 1 (1–5) 3 (2–4) 0.300
Total serum bilirubin (mg/dL) 7.0 (1.3–32.0) 12.7 (1.3–21.0) 6.6 (1.7–32.0) 0.296
Serum albumin (g/dL)e 3.7 (2.7–4.5) 3.8 (3.2–4.2) 3.8 (2.7–4.5) 0.777
Serum aspartate aminotransferase (U/L) 175 (45–1210) 92 (45–1120) 214 (69–1210) 0.844
Serum alanine aminotransferase (U/L) 142 (29–682) 96 (29–598) 104 (30–682) 0.947
Serum gamma-glutamyl transpeptidase (U/L) 28 (8–69) 25 (8–57) 33.5 (11–69) 0.154
  1. Data are shown as median (range), or as number (%)
  2. aValues less than 2.0 were observed in 13 children, including 5/9 with and 8/16 without genomic variations (p = 1.00)
  3. bValues less than 2.0 were observed in 10 children, including 4/9 with and 6/16 without genomic variations (p = 1.00)
  4. cLiver was palpable in all the 25 children
  5. dSpleen was palpable in 16 of the 25 children: including 5/9 with and 11/16 without genomic variations (p = 0.67)
  6. eSerum albumin level was abnormally low (<3.5 g/dL)  in 3 of 25 children: including 1/9 with and 2/16 without genomic variations (p = 1.00)