PDF(Pubmed)
Abstract：
UNASSIGNED: Hereditary Folate Malabsorption (HFM) is an extremely rare autosomal recessive disorder with in the existence of only 30 families world-wide. It presents with hematological, gastrointestinal, and neurological problems.
UNASSIGNED: Three-month-old-boy with a familial history of HFM presented to the clinic due to persistent fatigue, yellowish discoloration, feeding refusal, and pancytopenia. The patient received 3 packs of Red Blood Cells (RBCs). Five days after received 3 packs of RBCs, the patient presented with a fever of 38.3 Celsius with pancytopenia. The patient had low level of all immunoglobulins. He was started on broad-spectrum antibiotics. Testing for the HFM\'s SLC46A1 gene mutation, was positive. The patient was started on Leucovorin and Respirm.
UNASSIGNED: In this case, HFM presented as a neutropenic fever, hypoimmunoglobulinemia, low serum folate, elevated homocysteine, and a positive mutation on the SLC46A1. HFM has a wide-spectrum of presentations which includes hematological, neurological, immunological and gastrointestinal. Treatment involves the administration of folinic acid in either oral or intramuscular injections.
UNASSIGNED: HFM can present as neutropenic fever. High index of suspension is to be maintained when the presenting symptoms of the patients vary over a large number of systems. Genetic counseling is needed for parents when both are carrying an autosomal recessive allele.
UNASSIGNED: Three-month-old-boy with a familial history of HFM presented to the clinic due to persistent fatigue, yellowish discoloration, feeding refusal, and pancytopenia. The patient received 3 packs of Red Blood Cells (RBCs). Five days after received 3 packs of RBCs, the patient presented with a fever of 38.3 Celsius with pancytopenia. The patient had low level of all immunoglobulins. He was started on broad-spectrum antibiotics. Testing for the HFM\'s SLC46A1 gene mutation, was positive. The patient was started on Leucovorin and Respirm.
UNASSIGNED: In this case, HFM presented as a neutropenic fever, hypoimmunoglobulinemia, low serum folate, elevated homocysteine, and a positive mutation on the SLC46A1. HFM has a wide-spectrum of presentations which includes hematological, neurological, immunological and gastrointestinal. Treatment involves the administration of folinic acid in either oral or intramuscular injections.
UNASSIGNED: HFM can present as neutropenic fever. High index of suspension is to be maintained when the presenting symptoms of the patients vary over a large number of systems. Genetic counseling is needed for parents when both are carrying an autosomal recessive allele.
摘要：
未经证实：遗传性叶酸吸收不良（HFM）是一种极为罕见的常染色体隐性遗传疾病，在全世界仅有30个家族存在。它表现为血液学，胃肠,和神经问题。
未经证实：有家族HFM病史的3个月大男孩因持续疲劳而就诊，黄色变色，拒绝进食，和全血细胞减少症.患者接受3包红细胞（RBC）。收到3包红细胞后五天，患者出现38.3摄氏度的发烧并伴有全血细胞减少症。患者的所有免疫球蛋白水平较低。他开始使用广谱抗生素。测试HFM的SLC46A1基因突变，是积极的。患者开始接受亚叶酸和呼吸。
UNASSIGNED：在这种情况下，HFM表现为中性粒细胞减少症，低免疫球蛋白血症,低血清叶酸，同型半胱氨酸升高,和SLC46A1上的阳性突变。HFM具有广泛的表现，包括血液学，神经学,免疫学和胃肠道。治疗包括以口服或肌内注射的方式施用亚叶酸。
未经证实：HFM可表现为中性粒细胞减少性发热。当患者的症状在大量系统中变化时，应保持高的悬浮指数。当父母都携带常染色体隐性等位基因时，需要遗传咨询。
未经证实：有家族HFM病史的3个月大男孩因持续疲劳而就诊，黄色变色，拒绝进食，和全血细胞减少症.患者接受3包红细胞（RBC）。收到3包红细胞后五天，患者出现38.3摄氏度的发烧并伴有全血细胞减少症。患者的所有免疫球蛋白水平较低。他开始使用广谱抗生素。测试HFM的SLC46A1基因突变，是积极的。患者开始接受亚叶酸和呼吸。
UNASSIGNED：在这种情况下，HFM表现为中性粒细胞减少症，低免疫球蛋白血症,低血清叶酸，同型半胱氨酸升高,和SLC46A1上的阳性突变。HFM具有广泛的表现，包括血液学，神经学,免疫学和胃肠道。治疗包括以口服或肌内注射的方式施用亚叶酸。
未经证实：HFM可表现为中性粒细胞减少性发热。当患者的症状在大量系统中变化时，应保持高的悬浮指数。当父母都携带常染色体隐性等位基因时，需要遗传咨询。
