Adrenal insufficiency in a pediatric patient reveals a genetic disease


The conditions of chromosomal origin also carry extensive information on their continuing to contribute to the scientific literature.

Dr.. Maranglin Huertas Rivera, from the Department of Pediatrics, Municipal Hospital.

Which is that a 4-year-old pediatric patient was admitted to a pediatric intensive care unit due to severe hyponatremia, and is dealing with moderately severe symptoms that may include Brain edemaNausea without vomiting, confusion, headache, etc.

In an initial evaluation of this patient, laboratories for his genetic evaluation of developmental disorders showed low levels of sodium, said Dr. Maranglin Huertas Rivera, of the Department of Public Health, in an interview with Medicine and Public Health (MSP). Pediatrics Municipal Hospital.

Hyperpigmentation was also observed in the gums and folds of the palms, and a series of laboratories had been ordered to report elevated adrenocorticotropic hormone and low cortisol levels, consistent with a diagnosis of adrenal insufficiency (AI), he added.

Adrenal insufficiency is a clinical condition that occurs when the adrenal glands stop producing their hormones properly.

He revealed that “a general laboratory procedure is requested where low sodium is detected accompanied by adrenal insufficiency, and this is the way in which the specific genetic evaluation of adrenal dystrophy is done because it is known that adrenal insufficiency is a rare symptom of adrenal dystrophy.”

Adrenoleukodystrophy (ALD) is a progressive, X-linked neurodegenerative disease caused by mutations in the ABCD1 gene, which codes for the protein responsible for transmitting Fatty acids Very long chains within a cellular peroxisome.

When this transfer is affected, Fatty acids The long chain builds up in the various tissues of the body, which leads to its destruction and thus preventing its normal function.

Approximately 8 percent of patients with ALD have adrenal insufficiency as the only sign of the condition.

“This type of ALD usually appears in males between the ages of two years and until puberty, but usually before the age of 7.5 years and most of them develop myelopathy (a chronic condition in the spinal cord) by middle age.”

“It is essential to include X-ALD in the differential diagnosis of male patients who have a clinical presentation suggestive of adrenal insufficiency, because the implications of counseling in genetics, as well as on acute management, are vitally important. In the long term of that,” concluded Dr.

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