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Congenital Defects

Congenital defects refer to a group of genetic diseases and conditions affecting the gallbladder, which people acquire at birth. These defects go by a number of different names, including congenital abnormalities, birth defects, congenital disorders, and more. There are thousands of different congenital defects, including those that affect the gallbladder. However, the common theme of all congenital defects is that they cause abnormalities or problems in how the gallbladder develops and grows.

Congenital defects of the gallbladder start while the human foetus is developing inside a mother’s womb. It’s possible to detect these defects with genetic screening, but most people don’t think to perform this. In most cases, there’s no cure for congenital defects aside from surgery in some instances.

Signs & Symptoms

In general, there are two different types of congenital defects of the gallbladder – cystic defects and non-cystic defects. Cystic defects result from abnormal cysts or growths in the gallbladder or connected biliary tract. Non-cystic defects are when someone is born with an abnormal or malformed gallbladder. Regardless of the type of congenital defect in question, they will often result in the following symptoms.

  • Yellowing of the skin and eyes, known as jaundice
  • Pain in the upper right portion of the stomach area
  • Ongoing bouts of pancreatitis or cholangitis
  • Vomiting
  • Nausea
  • Diarrhoea
  • Poop that looks overly pale or clay-like
  • Inability to put on weight
  • Enlarged spleen
  • Urine that’s abnormally dark

In most cases, people with a congenital defect of the gallbladder experience symptoms fairly early in life. This happens because they’re born with the condition. However, depending on the part of the gallbladder or biliary duct that’s being affected, symptoms can start later in life. The severity of the symptoms will also vary depending on the part of the gallbladder or biliary duct that’s affected.

Causes & Risk Factors

Just as there are many different signs and symptoms of congenital defects of the gallbladder, there are also many different causes. Here are some of the most common.

  • Genetic mutations

The most common reason for serious congenital defects is genetic mutations. Genetic mutations occur for unexplained reasons and get passed on to children when both parents are carriers of the mutation.

  • Medications and chemicals

Exposure to certain medications and chemicals during pregnancy can lead to congenital defects.

While many congenital defects are unavoidable, such as those caused by genetic mutations, others are preventable. By making wise and healthy choices during pregnancy and listening to your doctor, you can avoid many congenital defects.

Diagnosis

It’s possible to diagnose congenital defects both during and after pregnancy using these methods.

  • Ultrasounds

Ultrasounds can help visually spot defects and abnormalities in a foetus. They can also see if there is a build-up of fluid near and around the foetus, indicative of a defect.

  • Blood Tests

Many congenital defects are detectable with a simple blood test. Testing can be performed on the foetus or the parents to determine if they have a genetic mutation causing a congenital defect.

Additional tests, such as urine or stool samples, can also help doctors diagnose congenital defects of the gallbladder.

Treatment & Management

The key to treating and managing congenital defects of the gallbladder is to get them diagnosed. Once your doctor determines which congenital defect you or your baby has, they can proceed with treatment. Unfortunately, most congenital defects don’t have cures. Certain treatments and therapies, however, can help the afflicted person lead a fairly normal life.

  • Surgery

For physical congenital defects, corrective surgery can sometimes fix the problem. This could include removing part or all of the gallbladder or receiving a liver transplant.

  • Medications

Medications can help manage troubling and painful symptoms.

Using this combination of treatments, it’s possible to live a fairly normal life despite having a congenital defect of the gallbladder.

 
 
 

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