Thrombocytopenia with congenital dyserythropoietic anemia
| Classification according to ICD-10 | |
|---|---|
| D69.4 | Other primary thrombocytopenia |
| ICD-10 online (WHO version 2019) | |
The thrombocytopenia with congenital anemia dyserythropoetischer is the group of Makrothrombozytopenien associated congenital form of thrombocytopenia with giant platelets, and occurrence of congenital anemia dyserythropoetischer (CDA).
Synonyms are: X-linked thrombocytopenia with CDA; X-linked congenital dyserythropoietic anemia with thrombocytopenia; XDAT
The first description by the US doctors Kim E. Nichols et al. Dates back to 2000.
distribution
The frequency is given as less than 1 in 1,000,000, at least 3 families have been described so far. The inheritance is X-linked - recessive .
root cause
The disease are mutations in GATA1 - gene on the X chromosome locus p11.23 basis that those involved in the formation of red blood cells and megakaryocytes involved transcription factor encoded GATA1.
Clinical manifestations
Clinical criteria are:
- mostly the male sex is affected, heterozygous women have no or only mild symptoms
- Thrombocytopenia with a tendency to bleed in infancy or even newborns, nosebleeds , bruises
- mild anemia
- Splenomegaly
sometimes a cryptorchidism can be added.
diagnosis
Diagnosis is based on family history and laboratory findings of thrombocytopenia, more rarely anemia, abnormal red blood cell size, and is confirmed by human genetic testing .
Differential diagnosis
The following are to be distinguished:
- Myelodysplastic Syndrome
- Thalassemia
- Meulengracht's disease
- Ball cell anemia
- Vitamin B12 deficiency
- Folic acid deficiency
- Iron deficiency
- AIDS
- malaria
- Leishmaniasis
- Wiskott-Aldrich Syndrome
treatment
Depending on the severity of the symptoms, treatment with transfusions or administration of desmopressin may be helpful.
forecast
The prognosis depends on the severity of the disease.
literature
- H. Shalev, J. Kapelushnik, A. Moser, O. Dgany, T. Krasnov, H. Tamary: A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. In: Journal of pediatric hematology / oncology. Volume 26, Number 11, November 2004, pp. 746-748, PMID 15543010 .
- KE Nichols, JD Crispino, M. Poncz, JG White, SH Orkin, JM Maris, MJ Weiss: Familial dyserythropoietic anemia and thrombocytopenia due to an inherited mutation in GATA1. In: Nature genetics. Volume 24, Number 3, March 2000, pp. 266-270, doi: 10.1038 / 73480 , PMID 10700180 .
Individual evidence
- ↑ a b c d e f Thrombocytopenia with congenital dyserythropoietic anemia. In: Orphanet (Rare Disease Database).
- ↑ KE Nichols, JD Crispino, M. Poncz, JG White, SH Orkin, JM Maris, MJ Weiss: Familial dyserythropoietic anemia and thrombocytopenia due to an inherited mutation in GATA1. In: Nature genetics. Volume 24, Number 3, March 2000, pp. 266-270, doi: 10.1038 / 73480 , PMID 10700180 .
- ↑ Thrombocytopenia, X-linked, with or without dyserythropoietic anemia. In: Online Mendelian Inheritance in Man . (English)
