Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-05-09 DOI:10.1016/j.ymgmr.2024.101087

Marianna Beghini , Maximilian Pichler , Fiona Carolina Tinnefeld , Matthäus Metz , Dorothea Möslinger , Vassiliki Konstantopoulou , Johannes Spenger , Alexandra Kautzky-Willer , Florian Frommlet , Thomas Scherer , Miriam Hufgard-Leitner

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引用次数: 0

Abstract

Purpose

A high rate of lost to follow-up (LTFU) in patients with phenylketonuria (PKU) represents a main challenge. In this study, we investigated potential risk factors for becoming LTFU related to adolescence as a critical period of life.

Methods

We retrospectively analyzed longitudinal data collected from 1993 to 2019 of patients diagnosed with classic PKU that were followed at our center during adolescence (14–18 y) and at least once in adulthood (>18 y). Patients who interrupted their contact with our center after the 18th birthday for at least 2 years were classified as LTFU. We performed a multivariate regression analysis to investigate following potential risk factors for becoming LTFU in adult life: sex, dietary compliance during adolescence assessed through the mean of the annual medians of phenylalanine plasma values, average number of contacts with the center during adolescence and age at first visit after the 18th birthday.

Results

93 patients (52 males, 41 females) were included in the study. 58% became LTFU during adulthood. The mean age at the last visit before becoming LTFU was 26.2 ± 5.1 years. In the multivariate Cox regression analysis we found that poor dietary compliance during adolescence was significantly associated with a higher risk of becoming LTFU during adulthood (p-value = 0.028).

Discussion

Adult patients who displayed poor treatment adherence during adolescence should be identified and carefully monitored to prevent loss of contact.

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青春期依从性差是苯丙酮尿症患者失去随访的一个风险因素

目的苯丙酮尿症（PKU）患者的高失访率（LTFU）是一项主要挑战。方法我们回顾性分析了 1993 年至 2019 年期间收集的纵向数据，这些数据涉及在青春期（14-18 岁）和成年期（18 岁）至少在本中心随访过一次的确诊为典型 PKU 患者。18岁生日后中断与本中心联系至少2年的患者被归类为LTFU。我们进行了多变量回归分析，以研究成年后成为LTFU的以下潜在风险因素：性别、通过苯丙氨酸血浆值年中值平均值评估的青少年时期饮食依从性、青少年时期与中心的平均联系次数以及18岁生日后首次就诊的年龄。58%的患者在成年后成为LTFU。成为LTFU前最后一次就诊的平均年龄为26.2 ± 5.1岁。在多变量 Cox 回归分析中，我们发现青春期饮食依从性差与成年期成为 LTFU 的较高风险显著相关（p 值 = 0.028）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.