ArticleFrontiers in medicine2026
Constitutional indocyanine green excretion defect in a Chinese patient without underlying liver disease: case report and mechanistic insights.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Constitutional indocyanine green excretion defect (CIED) is a rare disorder characterized by markedly delayed plasma indocyanine green disappearance (ICG-R15 > 50%) despite normal results from conventional liver function tests. We present case a case involving 60-year-old woman diagnosed with CIED, which represents the first documented case in a Chinese patient without any underlying liver disease. This case expands the recognized geographic and epidemiologic spectrum of CIED. Whole-exome sequencing revealed no deletions or pathogenic variants in genes encoding established ICG transporters [SLCO1B1 (OATP1B1), SLCO1B3 (OATP1B3), SLC10A1 (NTCP), and ABCC2 (MRP2)], excluding conventional mechanistic explanations. Our integrated clinical and molecular characterization offers novel insights into this rare disorder. These findings suggest a novel pathogenesis independent of known transporter deficiencies, highlighting the need for further research and underscoring the importance of integrating multidimensional clinical data for accurate interpretation of ICG test results.
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