Скачать или смотреть Case Study – 171 "Fanconi Anemia: Causes, Symptoms, and Treatment | Rare Genetic Disorder."

In this video, Sanjay Gupta, a 3rd-year MBBS student, presents a clinical case study on Fanconi Anemia, a rare inherited bone marrow failure syndrome.

We’ll cover:

Causes and genetic basis of Fanconi Anemia

Key clinical features and symptoms

Laboratory diagnosis and important findings

Treatment and management options

This case study aims to provide valuable insights into Fanconi Anemia for your medical education and professional growth. Don’t forget to like and subscribe for more educational content!


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🧬 Cause

Inheritance: Autosomal recessive (MC), rarely X-linked.

Genetic defect: Mutation in DNA repair pathway genes → chromosomal instability.

Leads to progressive bone marrow failure + ↑ risk of AML & solid tumors.


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⚠️ Symptoms

Onset: Usually in childhood

Physical anomalies:

Short stature

Café-au-lait spots

Abnormal thumbs/radial defects

Microcephaly, microphthalmia

Hematological:

Pancytopenia → fatigue, infections, bleeding/bruising

Long-term risk: ↑ Leukemia & squamous cell carcinoma.


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🧪 Lab Diagnosis

CBC: Pancytopenia (↓ Hb, ↓ WBC, ↓ Platelets).

Bone marrow: Hypoplastic marrow.

Chromosome breakage test: Positive with diepoxybutane/mitomycin C.

Genetic testing: Confirms FA gene mutation.


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💊 Treatment

Supportive: Blood transfusions, infection control.

Androgens: May stimulate hematopoiesis.

Curative: Hematopoietic stem cell transplant (HSCT).

Surveillance: Regular screening for malignancies.


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📌 Hashtags

#FanconiAnemia #RareDisease #CaseStudy #MBBS #MedicalEducation #BoneMarrowFailure #Genetics#sanjayguptambbs#sanjayguptalogsmbbs#sanjayguptalogs