Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

Yotsapon Thewjitcharoen; Soontaree Nakasatien; Veekij Veerasomboonsin; Sandra T.F. Tsoi; Cadmon K.P. Lim; Thep Himathongkam

doi:10.12659/AJCR.947141

05 April 2025 : Case report Thailand

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

Challenging differential diagnosis, Rare coexistence of disease or pathology

Yotsapon Thewjitcharoen^1ABCDEF*, Soontaree Nakasatien

^1BE, Veekij Veerasomboonsin

^2BE, Sandra T.F. Tsoi^345BC, Cadmon K.P. Lim^345CDEF, Thep Himathongkam^1DE

DOI: 10.12659/AJCR.947141

Am J Case Rep 2025; 26:e947141

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Figure 3. Sanger sequencing confirmation of A) chr17: 31326253 NF1 Heterozygous c.5268+1G>A and B) chr6: 51867999–51868002 PKHD1 Heterozygous c.7594_7597del, p.(Ser2532GlyfsTer46) in this patient.

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Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

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