Journal
CHILDREN-BASEL
Volume 9, Issue 4, Pages -Publisher
MDPI
DOI: 10.3390/children9040545
Keywords
Niemann-Pick disease type C; Alpha-fetoprotein; hepatic involvement; cholestasis
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Niemann-Pick disease type C (NPC) is a rare neuro-visceral lipid storage disease. This study found that elevated serum alpha-fetoprotein levels could potentially be a useful marker for diagnosing NPC-associated liver disease in infants.
Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of their workup during the first four months of life. In eight of nine (89%) patients, serum AFP demonstrated elevated levels. Seven infants displayed marked elevations, ranging from 4 to 300 times the upper limit for age-adjusted norms. In most patients, AFP levels peaked during the initial test and declined over time as cholestasis resolved. We conclude that elevated AFP levels are a common, although non-specific, marker for NPC-associated liver disease. These findings demonstrate the benefit of including AFP levels in the workup of neonatal liver disease, especially if there is accompanied cholestasis and if NPC is suspected.
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