Archive · 29 May 2025
Infant Receives Life-Saving Treatment for Rare Genetic Disorder
Imagine a baby whose body has trouble keeping the right amount of salt and blood pressure stable.
This baby has a very rare problem called Aldosterone Synthase Deficiency, or ASD.
It's like the body can't do its job properly.
The baby wasn't eating well and wasn't growing.
Doctors found out the baby had a rare change in a gene.
Doctors gave the baby medicine and extra salt.
The medicine helped the baby eat better, gain weight, and start growing and learning new things again.
The baby will need to take the medicine for the rest of their life.
This case is unique in India, highlighting the importance of checking for these rare problems in babies.
An infant in Vadodara, India, was diagnosed with a rare hormonal disorder called Aldosterone Synthase Deficiency (ASD).
The child exhibited poor feeding, vomiting, and developmental delays at five months old.
Genetic testing at seven months old confirmed ASD caused by a rare Thr185Ile mutation in the CYP11B2 gene.
Treatment with fludrocortisone and salt supplementation led to improved feeding, weight gain, and developmental progress.
The case is the first reported in Gujarat and across India, emphasizing the need for awareness and testing.
- Who
- An infant boy from Panchmahal district.
- What
- The infant was diagnosed with Aldosterone Synthase Deficiency and treated with medication and salt.
- When
- Diagnosis confirmed when the baby was seven months old, treatment began shortly after.
- Where
- Vadodara, Gujarat, India.
- Why
- The infant had a rare genetic disorder affecting hormone production, requiring treatment.
- Disorder
- Aldosterone Synthase Deficiency (ASD)
- Mutation
- Thr185Ile in CYP11B2 gene
- Symptoms
- Poor feeding, vomiting, developmental delays
- Treatment
- Fludrocortisone and salt supplementation
- Hospital
- MT Mirani Hospital
- Location
- Vadodara, Gujarat, India