Clinical Spectrum and Etiological Profile of Infantile Cholestasis with low or normal gamma-glutamyl transferase at a North Indian Tertiary Care Centre

Sonali Singh, Sanjeev Kumar Verma, Manisha Verma, Prerna Priyadarshini, Chanchal Rana
Author(s)
1Pediatrics Department, Saraswati Medical College, Uttar Pradesh, India, 2Pediatrics Department, King George Medical University, Lucknow, Uttar Pradesh, India, 3Pediatrics Department, Hind Institute of Medical Sciences, Ataria, Uttar Pradesh, India, 4Pathology Department, King George Medical University, Lucknow, Uttar Pradesh, India.

Abstract

Background: Low and normal γ-glutamyl transferase (GGT) cholestatic liver disorders have a very limited range of differential diagnoses and often require advanced tests for confirmation, posing challenges in diagnosis and management. Thus this study aimed to investigate the prevalence and contribution of low and normal GGT cholestatic disorders among children admitted to a tertiary care centre of Northern India. Material and Methods: This prospective observational study was conducted at a North Indian tertiary care centre between January 2020 and August 2021, and included children between 1–36 months with suspected hepatobiliary disorders. All infants with prolonged jaundice and elevated direct bilirubin levels were enrolled in the study. Children with vascular liver disease, indirect hyperbilirubinemia, or acute liver failure were excluded. Detailed clinical evaluation and relevant investigations, including imaging and liver biopsy when indicated, was performed. Data were analyzed using SPSS version 24, applying t-tests, Chi-square/Fisher’s exact tests, and ANOVA where appropriate. Results: A total of 53 participants with cholestasis (mean age 6.8 ± 8.2 months; 66.7% male) were enrolled, and out of that 34% had low or normal GGT levels. Liver biopsy was performed in 12 cases, and one-third showed liver decompensation. Identified causes included biliary atresia (6), choledochal cysts (4), sepsis (5), TORCH infections (3), PFIC (6), and galactosemia (3), while 26 remained indeterminate. Among the low/normal GGT group, 5 infants showed features of PFIC1/2, 2 had galactosemia, and 11 were indeterminate. Genetic testing confirmed PFIC2 in one case. Conclusion: Low and normal GGT cholestatic liver diseases are the third most common cause of infantile cholestasis in Northern India, followed by infections and structural biliary disorders.

Keywords: y-glutamyl transferase (GGT), hepatobiliary diseases, Northern India.

Outline