A Case of Hereditary Fructose Intolerance.
- Author:
Eun Kyeong KANG
1
;
Hye Ran YANG
;
Jeong Kee SEO
;
Sun Hoan BAI
;
Joo Young JEONG
;
Jae Sung KO
;
Il Soo HA
;
Jeong Han SONG
;
Kyeong Ae WI
;
Yoon Sook SHIN
Author Information
1. Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. jkseo@plaza.snu.ac.kr
- Publication Type:Case Report
- Keywords:
Hereditary fructose intolerance;
Aldolase B;
Fructose-1-phosphate
- MeSH:
Acidosis, Renal Tubular;
Diagnosis;
Diarrhea;
Diet;
Enzyme Assays;
Failure to Thrive;
Fructose;
Fructose Intolerance*;
Fructose-Bisphosphate Aldolase;
Fruit;
Hepatomegaly;
Homozygote;
Humans;
Hypoglycemia;
Intestines;
Kidney Tubules, Proximal;
Liver;
Renal Insufficiency;
Sweat;
Sweating;
Vomiting
- From:Journal of the Korean Pediatric Society
2002;45(1):120-124
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Hereditary fructose intolerance(HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B in which affected homozygotes develop hypoglycemia and abdominal symptoms after taking foods containing fructose. Chronic exposure to fructose may lead to progressive hepatic injury, renal injury, growth retardation, and ultimately to liver and kidney failure. Herein, we report a case of HFI with presentation of episodic vomiting, diarrhea, cold sweating, abnormal liver function and failure to thrive after 12 months of her age. She developed an aversion to fruits and sweet-tasting foods. When she was admitted to hospital at the age of 30 months, hepatomegaly, and dysfunction of proximal renal tubule with renal tubular acidosis were noted. We confirmed the diagnosis via enzyme assay on biopsied liver and intestine. A fructose restrictied diet was recommended. The patient has been symptom free with normal liver functions since then.
