Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity

El-Sheikh, Ayman; Hashem, Hasan; Holman, Carol J.; Vyas, Yatin M.

doi:10.1002/pbc.24945

Cited by 7 publications

(7 citation statements)

References 17 publications

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“…Several compound heterozygous CDAN1 variants have been previously described in association with fetal-onset CDA1. El-Sheikh et al described a fetal-onset case presenting with PPHN and axial skeleton abnormality and found to be compound heterozygous for CDAN1 variant c.1796A>G (p.Asn599Ser) and a previously undescribed deletion mutation c1104_1106delCTT (del of Phe#368/369) [6]. McDaniel and Cramer also reported a case of the fetal-onset variety and found it to be associated with novel compound heterozygous CDAN1 variants c.2072dupT and c.2093A>T [25].…”

Section: Discussionmentioning

confidence: 99%

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations

Meznarich

Draper

Christensen

et al. 2018

Blood Cells, Molecules, and Diseases

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The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.

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Section: Discussionmentioning

confidence: 99%

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations

Meznarich

Draper

Christensen

et al. 2018

Blood Cells, Molecules, and Diseases

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“…CDA‐I may present with pulmonary hypertension in the neonatal period, in association with other congenital anomalies (El‐Sheikh et al , ; Landau et al , ). Treatment includes inhaled nitric oxide and high frequency oscillation ventilation.…”

Section: Managementmentioning

confidence: 99%

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Roy

Babbs

2019

Br J Haematol

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Summary Congenital dyserythropoietic anaemia type I (CDA‐I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA‐I is caused by bi‐allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative mutations have been documented. The diagnostic pathway is reviewed and the utility of genetic testing in reducing the time taken to reach an accurate molecular diagnosis and avoiding bone marrow aspiration, where possible, is described. The management of CDA‐I patients is discussed, highlighting both general and specific measures which impact on disease progression. The use of interferon alpha and careful management of iron overload are reviewed and suggest the most favourable outcomes are achieved when CDA‐I patients are managed with a holistic and multidisciplinary approach. Finally, the current understanding of the molecular and cellular pathogenesis of CDA‐I is presented, highlighting critical questions likely to lead to improved therapy for this disease.

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“…39 Up to 20% of CDA patients can present with congenital anomalies, particularly syndactyly in hands or feet, absence of nails or supernumerary toes, and pigeon chest deformity, among others. 40 , 41 Proper use of genetic confirmation, along with sensitive laboratory tools and BM morphology findings, can aid in the differential diagnosis. 38 …”

Section: Congenital Dyserythropoietic Anemiasmentioning

confidence: 99%

Recommendations for Pregnancy in Rare Inherited Anemias

et al. 2020

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Rare inherited anemias are a subset of anemias caused by a genetic defect along one of the several stages of erythropoiesis or in different cellular components that affect red blood cell integrity, and thus its lifespan. Due to their low prevalence, several complications on growth and development, and multi-organ system damage are not yet well defined. Moreover, during the last decade there has been a lack of proper understanding of the impact of rare anemias on maternal and fetal outcomes. In addition, there are no clear-cut guidelines outlining the pathophysiological trends and management options unique to this special population. Here, we present on behalf of the European Hematology Association, evidence- and consensus-based guidelines, established by an international group of experts in different fields, including hematologists, gynecologists, general practitioners, medical geneticists, and experts in rare inherited anemias from various European countries for standardized and appropriate choice of therapeutic interventions for the management of pregnancy in rare inherited anemias, including Diamond-Blackfan Anemia, Congenital Dyserythropoietic Anemias, Thalassemia, Sickle Cell Disease, Enzyme deficiency and Red cell membrane disorders.

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Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity

Cited by 7 publications

References 17 publications

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Recommendations for Pregnancy in Rare Inherited Anemias

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