Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR)

被引：6

作者：

Niss, Omar ^{[1
,2
]}

Lorsbach, Robert B. ^{[2
,3
]}

Berger, Mikaela ^{[1
,2
]}

Chonat, Satheesh ^{[4
,5
]}

McLemore, Morgan ^{[6
]}

Buchbinder, David ^{[7
]}

McCavit, Timothy ^{[8
]}

Shaffer, Linda G. ^{[9
]}

Simpson, Jessica ^{[10
]}

Schwartz, Jeffrey H. ^{[10
]}

Meznarich, Jessica ^{[11
,12
]}

Emberesh, Myesa ^{[1
]}

Seu, Katie G. ^{[1
]}

Zhang, Wenying ^{[2
,13
]}

Kalfa, Theodosia A. ^{[1
,2
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Div Hematol, Canc & Blood Dis Inst, Cincinnati, OH 45229 USA

[2] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

[3] Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA

[4] Emory Univ, Dept Pediat, Sch Med, Atlanta, GA USA

[5] Childrens Healthcare Atlanta, Aflac Canc & Blood Disorders Ctr, Atlanta, GA USA

[6] Emory Univ, Sch Med, Winship Canc Inst, Dept Hematol & Med Oncol, Atlanta, GA USA

[7] CHOC Childrens Hosp, Dept Hematol, Orange, CA USA

[8] Cook Childrens Hosp, Ft Worth, TX USA

[9] Dell Childrens Med Ctr, Austin, TX USA

[10] UF Hlth Pediat Subspecialty Program Pensacola, Pensacola, FL USA

[11] Univ Utah, Dept Pediat, Div Hematol Oncol, Salt Lake City, UT USA

[12] Primary Childrens Med Ctr, Intermt Healthcare, Salt Lake City, UT USA

[13] Cincinnati Childrens Hosp Med Ctr, Lab Genet & Genom, Div Human Genet, Cincinnati, OH 45229 USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2021年 / 87卷

基金：

美国国家卫生研究院;

关键词：

Congenital dyserythropoietic anemia; CDAN1; Anemia; Erythropoiesis; Rare disease registry; PERSISTENT PULMONARY-HYPERTENSION; LABORATORY MANIFESTATIONS; CLINICAL-APPEARANCE; SPASTIC DIPLEGIA; MUTATIONS; ALPHA; EPIDEMIOLOGY; THERAPY; HEMANGIOMAS; GENE;

D O I：

10.1016/j.bcmd.2020.102534

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Registry of North America (CDAR) to study the natural history of CDA and create a biorepository to investigate the pathobiology of this heterogeneous disease. Seven of 47 patients enrolled so far in CDAR have CDA-I due to biallelic CDAN1 mutations. They all presented with perinatal anemia and required transfusions during infancy. Anemia spontaneously improved during infancy in three patients; two became transfusion-independent rapidly after starting interferon-alpha(2); and two remain transfusion-dependent at last follow-up at ages 5 and 30 y.o. One of the transfusion-dependent patients underwent splenectomy at 11 y.o due to misdiagnosis and returned to medical attention at 27 y.o with severe hemolytic anemia and pulmonary hypertension. All patients developed iron overload even without transfusions; four were treated with chelation. Genetic testing allowed for more rapid and accurate diagnosis; the median age of confirmed diagnosis in our cohort was 3 y.o compared to 17.3 y.o historically. In conclusion, CDAR provides an organized research network for multidisciplinary clinical and research collaboration to conduct natural history and biologic studies in CDA.

引用

页数：7