Clinical features and long-term outcomes of patients with ZFYVE19 variants.
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BACKGROUND: ZFYVE19-associated progressive familial intrahepatic cholestasis is a rare ciliopathy, with limited information on its natural history. AIMS: Investigate long-term outcomes, especially after liver transplantation (LT), in ZFYVE19-deficient patients. METHODS: Medical data of 13 Chinese individuals genetically diagnosed with ZFYVE19 deficiency, including 4 unreported patients, were reviewed. RESULTS: All patients harbored biallelic null variants in ZFYVE19 and were alive at a median age of 13.2 years (range 1.1-39) with a median follow-up of 6.4 years (range 1-19.7). The first manifestation was neonatal cholestasis in 4 patients, isolated abnormal hepatobiliary-injury biomarkers in 3, and portal hypertension in 6. Eleven patients were administered ursodeoxycholic acid, with temporary normalization of hepatobiliary-injury biomarkers in 7. Six patients underwent LT (4 with living-related donors) at a median age of 3.5 years (range 0.6-7). After a median follow-up of 5.3 years (range 0.5-19) after LT, all 6 patients survived and were asymptomatic. Chronic renal disease or malignancy has not supervened. CONCLUSION: ZFYVE19 deficiency caused by biallelic null variants primarily affects the liver without clinically significant involvement of other organs. ZFYVE19-related neonatal cholestasis can progress to liver failure necessitating LT in infancy. Ursodeoxycholic acid may improve hepatobiliary indices but may not avoid cirrhosis / LT. LT outcomes are generally good, even with parental grafts.