A Case of Alkaptonuria Presenting with Unexplained Dark-Stained Diapers and Spurious Hyperoxaluria and Proteinuria Due to Homogentisic Acid Interference

Thibault Vanhove, Margo Aertgeerts,Peter Witters,Daisy Rymen,Detlef Bockenhauer,Glynis Frans,Pieter Vermeersch

Biochemia medica（2024）SCI 4区SCI 3区

Cited 0|Views1

Abstract

Alkaptonuria is characterized by the accumulation of homogentisic acid which causes dark coloration of urine upon standing, ochronosis, and arthritis. A 4-year old child was referred to our pediatric nephrologist with hyperoxaluria and a history of unexplained pink-to-brown discolouration of his diapers associated with a brown-staining of clothes and skin since he was six months old. He had no other symptoms and his past medical history only included minor child illnesses. His 11-month-old brother had the same dark discoloration of his diapers. Laboratory testing on a spot urine sample showed hyperoxaluria and nephrotic range proteinuria with low creatinine and normal albumin concentrations. Considered causes were hyperoxaluria, alkaptonuria, interfering substance, adulteration. The further diagnostic work-up revealed increased homogentisic acid in urine, compatible with alkaptonuria. Urinary creatinine and total protein measurements on Roche Cobas were, respectively, falsely decreased and increased in the presence of homogentisic acid. The false-low creatinine resulted in an elevated oxalate/creatinine ratio. Alkaptonuria can cause a false increase of results expressed per creatinine and should be excluded in case of an unexplained marked increase of urine total protein without a concomitant increase of albumin.

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Key words

preanalytical phase,interference,homogentisic acid,dark-stained urine,alkaptonuria,inborn errors of metabolism,case report

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【要点】：本文报告了一例4岁儿童因尿黑酸症导致尿液中尿黑酸积累，出现不明原因的尿布变色和蛋白尿、高草酸尿的病例，并讨论了该病症对实验检测的干扰。

【方法】：通过病例分析，对患儿的尿液样本进行实验室检测，包括尿黑酸、尿蛋白、尿草酸及尿肌酐等指标的测定。

【实验】：对病例的尿液样本进行了检测，使用Roche Cobas检测系统，发现尿黑酸的存在导致尿肌酐测量值偏低，而尿蛋白测量值偏高，从而影响了尿草酸/肌酐比值的准确性，结果提示尿黑酸症可导致以肌酐为单位的尿蛋白结果假性升高。