Adenine Phosphoribosyltransferase Deficiency

Summarized by Plex Health
Last Updated: 02 May 2022
adenine phosphoribosyltransferase deficiency: a rare cause of recurrent urolithiasis "adenine phosphoribosyltransferase deficiency: a rare cause of recurrent urolithiasis", by . f2: (A) Light microscopy showing typical brown 2,8-DHA crystals. (B) Polarized light microscopy with typical central Maltese cross pattern. With permission from V. Edvardsson, MD, The APRT Deficiency Program of the Rare Kidney Stone Consortium...

Adenine phosphoribosyltransferase deficiency is an inherited problem that affects the kidneys and urinary system. Later, recurrent kidney and urinary system stones can lead to troubles with kidney function starting as early as mid- to late childhood years. Around fifty percent of people with APRT deficiency first experience signs and symptoms of the problem in their adult years. Other signs and symptoms of APRT deficiency triggered by kidney and urinary tract stones include fever, urinary system infection, blood in the urine, abdominal pains, nausea or vomiting, and throwing up. Without therapy, kidney function can decline, which may lead to end-stage renal disease. When the kidneys are no longer able to filter fluids and waste items from the body effectively, esrd is a deadly failure of kidney function that occurs. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the problem.

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