疾患詳細

疾患詳細





243320
Intrinsic factor and binder, combined congenital deficiency of

内因子と結合因子, 混合性先天性欠損症

遺伝子座:不明
遺伝形式:常染色体劣性

(症状)
【血液】巨赤芽球性貧血
【一般】成長障害
【神経】脊髄の亜急性混合変性
【検査】胃液の内因子欠損
 酸分泌と胃粘膜は正常
 胃液 / 血清 / 唾液 / 多核球のR 結合因子の欠損

(ノート)
In the 14.5-year-old son of a first-cousin Algerian couple, Zittoun ら(1988) identified deficiency of both intrinsic factor and R binder. Separate deficiencies are well described (see 261000 and 193090, respectively). The boy presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. Intrinsic factor was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juice as well as from serum, saliva, and polymorphonuclear leukocytes.

(文献)
Zittoun J et al. Combined congenital deficiencies of intrinsic factor and R binder. Blood 72: 940-943, 1988

1997/01/13