Monogenic Diabetes – The Rarest Condition


Monogenic Diabetes- The Rarest Condition That Everybody Should Know

Monogenic diabetes is the rarest form of diabetes which is most of the time diagnosed incorrectly. Many times doctors or health care experts diagnose it as type 1 or type 2 diabetes.

What Is Monogenic Diabetes And Its Forms?

Monogenic Diabetes – The Rarest Condition

Monogenic Diabetes occurs when there is mutation or changes that occur in any single gene (as the name suggests). In many countries like the United States, the percentage of these patients are 1 to 3 of all other patients and hence is among the rarest form of diabetes.

Two forms of this Diabetes are Maturity Onset Diabetes of Young (also called MODY) and the other is Neonatal Diabetes Mellitus (NDM). The former occurs in the pre-stage of adulthood and the latter occurs mostly in newborns and young children.

MODY

The most common form of Mellitus diabetes is MODY. It is mostly present in teenagers or even earlier but, in most cases, it is evasive from detection till adulthood. No prominent symptoms are evident even in the late teenage years. The severity of the illness cannot have a diagnosis until the gene in the process does not escape detection. According to research and studies, in all, there are nine genes that are responsible for this condition. Also, research is going on to determine more genes that are in this form of Diabetes. This study may further simplify the diagnosis of this rarest form.

Neonatal

Neonatal diabetes is very rare. It can occur only in the first six months of birth. With this illness, baby’s growth has an obstruction in the womb itself (before birth) due to which, they may appear smaller to their age as they are born. Neonatal diabetes is of two forms again and they are:

Monogenic Diabetes- The Rarest Condition That Everybody Should Know
  1. Permanent: It stays lifelong
  2. Transient: This type of Neonatal Diabetes doesn’t remain lifelong (ends in infancy) but can arise again somewhere in the life ahead.

Diagnosis

Whenever a patient has high blood sugar, doctors may diagnose the condition with type 2 diabetes instead of monogenic Diabetes. If they further think that it may be monogenic one, they may ask to perform some tests and look for some common symptoms of this condition. Common symptoms or clinical factors that may be considered by doctors are:

  • If blood sugar levels are high and seen in the first six months of life.
  • Other complications caused by gene mutation like a cyst in the kidney or so.
  • If a person’s family and he himself is not obese.
  • Diabetic family history.

These are the common clinical factors in consideration along with some blood test results that doctors look at for diagnosing monogenic diabetes. With these factors- which form of Monogenic Diabetes is triggered (MODY or Neonatal) can also be known.

Blood Test For Diagnosing The Condition

A blood test reveals three basic tests that are:

  • Glucose levels in the blood.
  • Insulin amount the body is making.
  • Presence of autoantibody, if any.
  • Testing of the genetic information to diagnose the forms of this diabetes.

Treatment of MODY or neonatal disease is done based on the causes, diagnosis, clinical factors responsible and clinical blood tests. Hence if you suspect that any of your family members with diabetes have monogenic diabetes, consult your doctor and get all the tests.

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