慢性大腸炎を合併した糖原病Ib型の1例

Long-term Follow-up of Colitis Occurring in a Patient with Glycogen Storage Disease Type Ib, Report of a Case

要旨　症例は17歳，男性．生後3か月時に糖原病Ib型と診断され，10歳時より好中球減少症による易感染性に対してG-CSFの投与を受けていた．1999年1月より1日4～5行の水様性下痢が出現したため当科を受診した．注腸X線検査では全大腸に及ぶ鉛管状ないしは萎縮瘢痕帯様の所見がみられ，横行結腸と下行結腸には輪状傾向を有する不整形潰瘍が認められた．内視鏡検査では，不整形潰瘍に加えて介在粘膜の血管透見像の乱れが観察された．以後6年間の経過観察中，不整形潰瘍が散発性に出没し，腸管長軸方向への短縮がわずかに進行したが，腸管狭小化や瘻孔出現はなかった．糖原病Ib型では慢性炎症性腸病変を合併することが知られているが，自験例ではその進行は緩徐であった．

　A 17-year-old boy was referred to our institution because of complaints of fever and watery diarrhea. Through typical clinical findings and defective enzyme activity, at the age of 3 months, he had been diagnosed as having glycogen storage disease type Ib. After the age of 10 years, he had been continuously treated by G-CSF therapy against bacterial infections and severe neutropenia. Under colonoscopy, scattered aphthous ulcers and distorted vascular pattern were observed throughout the colorectum. Radiography demonstrated a lead-pipe phenomenon and a circumferential narrowing in the descending colon. Histological examination of biopsy specimens revealed nonspecific inflammation without granulomata. These findings favored the association of chronic colitis and glycogen storage disease type Ib. During the subsequent follow-up for 6 years under G-CSF therapy, no severe colonic complications, such as strictures and fistulas, have occurred. Based on the favorable clinical course of the case, it was suggested that continuous G-CSF therapy may be the first therapy of choice for chronic inflammatory bowel disease in patients with glycogen storage disease type Ib.