Rare Paediatric Diseases

Hutchinson-Gilford Progeria Syndrome 

One of the most Rare Paediatric disease, Hutchinson-Gilford Progeria syndrome is a rare fatal genetic progressive that causes a person to age prematurely. Children with progeria seem healthy, but by the age of 2 years, they look as if they have turned out to be old too fast. It is additionally a Classic “accelerated aging disease”, not caused by defective DNA repair. It is affected by a tiny, point mutation in a single gene, identified as Lamin A(LMNA). The signs closely look like aging and include wrinkles, hair loss and delayed growth. As the individual ages, progeria turns out to be more severe with an average life expectancy of 12 years.

Cause

Progeria is caused by mutation in the LMNA gene. The LMNA gene provides information for production a protein named lamin A. This protein plays an vital role in defining the shape of the nucleus within cells. It is an critical scaffolding (supporting) element of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome,consequence in the creation of an abnormal version of the Lamin A protein. The transformed protein makes the nuclear envelope unstable and gradually damages the nucleus, making cells more likely to die prematurely.

Symptoms

Most children with progeria look healthy when they're until 18-24 months, but they start to show symptoms of the syndrome during their first year. Babies with progeria do not grow or gain weight generally. They develop physical qualities including:

• A bigger head
• Prominent eyes
• A small lower jaw
• A thin nose with a "beaked" tip
• Protruding ears
• Veins you can see
• Slow and abnormal tooth growth
• A high-pitched voice
• Loss of body fat and muscle
• Hair loss, including eyelashes and eyebrows

As children with progeria get older, including bone loss, hardening of the arteries, and heart disease. Progeria affected Children generally die of heart attacks or strokes.

A child's intelligence or brain development don't affected by Progeria. A child with the disorder isn't any more possible to get infections than other kids, also.

Early diagnosis

Subsequently, the symptoms are very noticeable, child’s pediatrician may suspect based on signs and symptoms characteristic of the syndrome. A genetic test for LMNA mutations can approve the identification of progeria.

A systematic physical exam of your child includes:

Relate your child’s height and weight to other kids the same age.

Plotting measurements on a normal growth curve chart

Test hearing and vision

Measuring pulse, including blood pressure

Observing for noticeable signs and symptoms that are typical of progeria

Treatment

There's no solution for progeria, yet researchers are dealing with discovering one. A sort of cancer drug, FTIs (farnesyltransferase inhibitors), may repair the harmed cells.

Treatments typically support simplicity or delay a portion of the disease's symptoms.

Drug - Your child's specialist may prescribe drugs to lower cholesterol or avoid blood clots. A low dose of aspirin every day can help inhibit heart attacks and stroke. Growth hormone can help construct height and weight.

Physical and professional therapy can help your child keep moving if they have firm joints or hip difficulties.

Surgery - Some children may have coronary bypass surgery or angioplasty to moderate the development of heart disease