Lightwood-Albright syndrome
Lightwood-Albright syndrome is a rare hereditary disease characterized by metabolic disorders in the kidneys.
Main symptoms:
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Impaired excretion of phosphorus in the urine, which leads to its excess in the blood.
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Decreased ammonia production in the liver.
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Metabolic acidosis due to the accumulation of acids in the blood.
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Growth retardation and impaired skeletal formation.
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Stone formation in the kidneys and urinary tract.
The cause of the disease is mutations in the SLC34A1 and SLC34A3 genes, encoding phosphate transport proteins in the proximal tubules of the kidneys.
The syndrome was first described in 1937 by the English pediatrician R. Lightwood and the American endocrinologist F. Albright. Hence the name - Lightwood-Albright syndrome.
Treatment includes dietary phosphorus restriction, intestinal phosphate binders, and alkaline agents to correct acidosis. With timely diagnosis and adequate treatment, the prognosis is favorable.
Lightwood Albright syndrome - what is it?
Lightwood-Albrock syndrome, Lightwood-Albrock syndrome - hypokalemic renal acid defect - pseudohypoaldosteronism.
This is one of the rare forms of hypoparathyroidism, which is characterized by hypocalcemia, hyperkalemia and impaired renal function. People with this syndrome may have problems with eating, metabolism, and seizures. Hypocalcemia usually occurs due to increased phosphate levels