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Original Article
Congenital Chloride Diarrhea in 5 Korean Infants
Dong Hun Rhie, Sun Hwan Bae, Ji Eun Choi, Bo Young Yun, Dong Woo Son, Choong Ho Shin, Kyung Hee Park, Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2000;43(11):1465-1472.   Published online November 15, 2000
Purpose : Congenital chloride diarrhea(CLD) is an autosomal recessive disease characterized by life-long watery diarrhea of prenatal onset with high fecal Cl－ concentration. Recent studies have revealed that the protein product of the down-regulated in adenoma(DRA) gene is an intestinal anion transporter molecule and causes CLD when mutated. We investigated the clinical characteristics of CLD in Korean infants in order...
Case Report
Familial Erythrophagocytic Lymphohistiocytosis in Siblings
Eun Sook Lee, Ji Eun Choi, Dug Ha Kim, Hae Ran Lee, Chong Young Park
Clin Exp Pediatr. 1995;38(3):428-434.   Published online March 15, 1995
Familial erythrophagocytic lymphohistiocytosis(FEL) is an uncommon disorder characterized by multi-organ infiltration with phagocytic histiocytes and macrophages. It is a familial discorder presenting during infancy or young childhood with fever, hepartosplenomegaly, pancytopenia, bleeding diathesis, hypertriglyceridemia and neurologic manifestations. The course of the disease is extremely lethal and diagnosis of the disease during lifetime is very difficult. Exact diagnosis can only be...
Cystinuria 3 Cases
Ji Eun Choi, Bo Young Yun, Hae Won Park, Jae Hong Park, Il Sue Ha, Hae Il Jeong, Yong Choi, Hwang Choi, In Won Kim
Clin Exp Pediatr. 1995;38(2):245-251.   Published online February 15, 1995
We report three cases of cystinuria, presenting with urinary stones. A 2-year-old girl presented with urinary difficulty, hematuria, dysuria of sudden onset, and her 7-month-old younger brother also was presented with urinary difficulty, irritability on urination & stone passage. Other 6-month-old boy was admitted due to sudden onset anuria. They had radioopague renal & ureter stones and stone analysis revealed mixed...
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