Objective: The evaluation of patients with neonatal cholestasis is difficult due to the variety of cholestatic syndromes and non-specific clinical findings. It is important to recognize treatable diseases promptly. The aim of this study is to draw attention to suspicious markers in order to diagnose treatable metabolic diseases.
Method: The presented retrospective study included patients with cholestasis in the first three months of life. The study was conducted between 2018 and 2021 at Diyarbakır Childrens Hospital, Türkiye.
Results: 253 patients presenting with neonatal cholestasis were retrospectively evaluated. 174 patients (68.77%) were examined for intrahepatic cholestasis. 16.6% of the patients were diagnosed with an infection, 13.43% with TPN-related cholestasis, 8.3% with IEM, 7.11% with cystic fibrosis, 4.74% with endocrinopathy, 4.34% patients with Alpha-1 antitrypsin deficiency, 2.76% with idiopathic neonatal hepatitis, 1.97% with genetic syndrome, 1.58% with PFIC, and 0.79% patients with Alagille syndrome. IEM-related patients (21) were diagnosed with tyrosinemia type 1, galactosemia, Niemann-Pick type A, glycogen storage disease type 3, peroxisomal disorders, fatty acid oxidation defects, mitochondrial DNA depletion syndrome, citrine deficiency, Niemann-Pick Type C and bile acid synthesis defect. Plasma tyrosine and methionine levels were high in patients with not only tyrosinemia type 1, but also galactosemia and citrine deficiency. Therapeutic plasma exchange was performed in two patients with fatty acid oxidation disorders.
Conclusion: Neonatal cholestasis poses a diagnostic challenge for clinicians. Delayed referral to a specialist for treatable metabolic diseases may increase mortality and morbidity. IEMs are observed more frequently in the etiologies of neonatal cholestasis in Türkiye due to high parental consanguinity and inadequate newborn screening programs. Treatable disorders should be considered early, as therapeutic interventiosn can be lifesaving. It also helps in genetic counseling, prenatal diagnosis for future pregnancies.