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New observation of sialuria prompts detection of liver tumor in previously reported patient.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2016 Jun; Vol. 118 (2), pp. 92-9. Date of Electronic Publication: 2016 Apr 16. - Publication Year :
- 2016
-
Abstract
- Unlabelled: Sialuria, a rare inborn error of metabolism, was diagnosed in a healthy 12-year-old boy through whole exome sequencing. The patient had experienced mild delays of speech and motor development, as well as persistent hepatomegaly. Identification of the 8th individual with this disorder, prompted follow-up of the mother-son pair of patients diagnosed over 15years ago. Hepatomegaly was confirmed in the now 19-year-old son, but in the 46-year-old mother a clinically silent liver tumor was detected by ultrasound and MRI. The tumor was characterized as an intrahepatic cholangiocarcinoma (IHCC) and DNA analysis of both tumor and normal liver tissue confirmed the original GNE mutation. As the maternal grandmother in the latter family died at age 49years of a liver tumor, a retrospective study of the remaining pathology slides was conducted and confirmed it to have been an IHCC as well. The overall observation generated the hypothesis that sialuria may predispose to development of this form of liver cancer. As proof of sialuria in the grandmother could not be obtained, an alternate cause of IHCC cannot be ruled out. In a series of 102 patients with IHCC, not a single instance was found with the allosteric site mutation in the GNE gene. This confirms that sialuria is rare even in a selected group of patients, but does not invalidate the concern that sialuria may be a risk factor for IHCC.<br />Synopsis: Sialuria is a rare inborn error of metabolism characterized by excessive synthesis and urinary excretion of free sialic acid with only minimal clinical morbidity in early childhood, but may be a risk factor for intrahepatic cholangiocarcinoma in adulthood.<br /> (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Subjects :
- Bile Duct Neoplasms diagnosis
Bile Duct Neoplasms surgery
Child
Cholangiocarcinoma diagnosis
Cholangiocarcinoma surgery
Female
Hepatomegaly diagnosis
Heterozygote
Humans
Liver pathology
Liver Neoplasms diagnosis
Liver Neoplasms surgery
Male
Middle Aged
N-Acetylneuraminic Acid biosynthesis
N-Acetylneuraminic Acid urine
Rare Diseases diagnosis
Retrospective Studies
Risk Factors
Sialic Acid Storage Disease diagnosis
Exome Sequencing
Young Adult
Bile Duct Neoplasms genetics
Cholangiocarcinoma genetics
Liver Neoplasms genetics
Rare Diseases genetics
Sialic Acid Storage Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 118
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 27142465
- Full Text :
- https://doi.org/10.1016/j.ymgme.2016.04.004