Neonatal diabetes mellitus
Encyclopedia
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. It is a rare disease
, occurring in only one in 100,000 to 500,000 live births. Infants with NDM do not produce enough insulin
, leading to an increase in blood glucose. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. In about half of those with NDM, the condition is lifelong and is called permanent neonatal diabetes mellitus
(PNDM). In the rest of those with NDM, the condition is transient and disappears during infancy but can reappear later in life; this type of NDM is called transient neonatal diabetes mellitus
(TNDM). Specific genes that can cause NDM have been identified.
Symptoms of NDM include thirst, frequent urination
, and dehydration
. NDM can be diagnosed by finding elevated levels of glucose in blood or urine. In severe cases, the deficiency of insulin may cause the body to produce an excess of acid, resulting in a potentially life-threatening condition called ketoacidosis
. Most fetuses with NDM do not grow well in the womb and newborns are much smaller than those of the same gestational age, a condition called intrauterine growth restriction
. After birth, some infants fail to gain weight and growth as rapidly as other infants of the same age and sex. Appropriate therapy improves and may normalize growth and development.
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
, occurring in only one in 100,000 to 500,000 live births. Infants with NDM do not produce enough insulin
Insulin
Insulin is a hormone central to regulating carbohydrate and fat metabolism in the body. Insulin causes cells in the liver, muscle, and fat tissue to take up glucose from the blood, storing it as glycogen in the liver and muscle....
, leading to an increase in blood glucose. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. In about half of those with NDM, the condition is lifelong and is called permanent neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell KATP channel....
(PNDM). In the rest of those with NDM, the condition is transient and disappears during infancy but can reappear later in life; this type of NDM is called transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus is a form of diabetes mellitus presenting at birth that is not permanent.Types include:It is to do with genetics and is often associated with having an added Chromosome 7 gene ....
(TNDM). Specific genes that can cause NDM have been identified.
Symptoms of NDM include thirst, frequent urination
Frequent urination
Frequent urination, or urinary frequency, is the need to urinate more often than usual. It is often, though not necessarily, associated with urinary incontinence and polyuria.A frequent need to urinate at night is called nocturia...
, and dehydration
Dehydration
In physiology and medicine, dehydration is defined as the excessive loss of body fluid. It is literally the removal of water from an object; however, in physiological terms, it entails a deficiency of fluid within an organism...
. NDM can be diagnosed by finding elevated levels of glucose in blood or urine. In severe cases, the deficiency of insulin may cause the body to produce an excess of acid, resulting in a potentially life-threatening condition called ketoacidosis
Ketoacidosis
Ketoacidosis is a metabolic state associated with high concentrations of ketone bodies, formed by the breakdown of fatty acids and the deamination of amino acids. The two common ketones produced in humans are acetoacetic acid and β-hydroxybutyrate....
. Most fetuses with NDM do not grow well in the womb and newborns are much smaller than those of the same gestational age, a condition called intrauterine growth restriction
Intrauterine growth restriction
Intrauterine growth restriction refers to poor growth of a baby while in the mother's womb during pregnancy. The causes can be many, but most often involve poor maternal nutrition or lack of adequate oxygen supply to the fetus....
. After birth, some infants fail to gain weight and growth as rapidly as other infants of the same age and sex. Appropriate therapy improves and may normalize growth and development.