Living with Congenital neutropenia-myelofibrosis-nephromegaly syndrome
A rare genetic immune condition with very low infection-fighting white cells, bone marrow scarring, and enlarged kidneys.
Understanding Congenital neutropenia-myelofibrosis-nephromegaly syndrome
It causes severe neutropenia (low neutrophils) and scarring of the bone marrow (myelofibrosis). It does not respond to the usual white-cell boosting treatment (G-CSF). People can have serious infections or deep abscesses, enlarged liver, spleen, and kidneys, low platelets, and anemia. Bone and nervous system differences have also been reported. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low neutrophil count (neutropenia)
- Frequent infections
- Enlarged liver and spleen
- Enlarged kidneys
- Low red blood cells (anemia) and platelets
- Poor weight gain (failure to thrive)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in VPS45 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the VPS45 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; severe congenital neutropenia 5, autosomal recessive; vps45 deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital neutropenia-myelofibrosis-nephromegaly syndrome.
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