Kidney failure in a pediatric patient reveals a genetic disease

Conditions of chromosomal origin also carry extensive information that continues to contribute to the scientific literature.

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

And that is that a 4-year-old pediatric patient was admitted to the pediatric intensive care unit due to severe hyponatremia, and these symptoms are somewhat severe. Brain edemaNausea without vomiting, confusion, headache, etc.

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

He added that 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 diagnoses of adrenal insufficiency (AI).

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

“In their evaluation in neurodevelopmental disorders clinics, speech and motor coordination disorders were diagnosed. As it is known that adrenal insufficiency is a rare symptom of adrenal dystrophy,” he revealed.

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 transport is affected, Fatty acids The long chain accumulates in the various tissues of the body, which leads to its destruction and thus preventing its normal function.

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

He added, “This type of ALD usually occurs 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.