• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Journal of the Korean Society of Radiology
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• v.17 no.3
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• pp.385-392
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• 2023

Caroli's disease is a fibrocystic liver disease. Autosomal recessive disorder is characterized by congenital multiple dilatation of the bile duct. Computerized tomography, magnetic resonance imaging, cholangiography and ultrasound are among the methods for diagnosing caroli disease. Computerized tomography is essential for detecting and distinguishing fibroplastic liver disease and is useful for determining intrahepatic bile duct dilatation. However, awareness of the possible side effects of using contrast mediums is necessary. A typical method of magnetic resonance cholangiography is used for magnetic resonance imaging. A non-invasive examination can reduce the pain of the patient, and the anatomical structure of the bile pancreatic duct and the presence or absence of lesions can be easily and quickly observed. Biliary contrast is an effective diagnostic method that can directly visualize various cystic dilatations throughout the enlarged bile duct. However, since this procedure is also an invasive procedure, it is recommended not for diagnosis but for treatment purposes. Ultrasonography can confirm similar findings to computerized tomography. The hepatic artery root is difficult to prove with conventional grayscale ultrasound. However, it is of clinical value in that it can not only describe dilated bile ducts with vascular roots in the tube but also easily identify color Doppler signals in the tube. With the development of video diagnostics, early diagnosis has become possible through computerized tomography, magnetic resonance imaging, cholangiography, and ultrasound. In order to further contribute to the development of video diagnostics so that long-term prognosis can be improved after treatment through early diagnosis, we examined what aspects of each test's caroli disease appear.