Congenital dyserythropoietic anemia

from Wikipedia, the free encyclopedia
Classification according to ICD-10
D64.4 Congenital dyserythropoietic anemia - Dyshem (at) opoietic anemia (congenital)
ICD-10 online (WHO version 2019)

The term congenital dyserythropoietic anemia , English Congenital dyserythropeietic anemia ( CDAN ), comprises a group of rare congenital diseases with insufficient production of red blood cells, which is noticeable even in childhood.

distribution

The frequency is given as 1–9 in 1,000,000.

Classification

According to the underlying genetic defect, the following forms are distinguished:

  • Type I CDAN1 with mutations in CDAN1- gene at the location 15q15 encoding Codanin-1, autosomal - recessive
  • Type II CDAN2 with mutations in the SEC23B gene at location 20p11.2, autosomal recessive
  • Type III CDAN3 with mutations in the KIF23 gene at location 15q21, autosomal dominant
  • Type IV CDAN4 with mutations in the KLF1 gene at location 19p13.13-p13.12

Clinical manifestations

Common clinical findings are:

Type I and II develop increasing iron storage . CDA I is often associated with dysmorphism , especially of the fingers.

Differential diagnostics

Must be distinguished is the thrombocytopenia with congenital dyserythropoetischer anemia .

therapy

Treatment is essentially symptomatic, but alpha interferon can be helpful in type I patients.

literature

  • J. Rössler, W. Havers: Diagnostics and genetics of congenital dyserythropoietic anemia (CDA). In: Clinical Pediatrics. Vol. 212, No. 4, 2000 Jul-Aug, pp. 153-158, doi: 10.1055 / s-2000-9669 , PMID 10994542 (review).

Individual evidence

  1. ↑ a b c d Congenital dyserythropoietic anemia. In: Orphanet (Rare Disease Database).
  2. ↑ CDAN1a.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ CDAN2.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ CDAN3.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ CDAN4.  In: Online Mendelian Inheritance in Man . (English)

Web links