Orphanet Journal of Rare Diseases最新文献

Introduction: Adult care for individuals with phenylketonuria (PKU) remains limited, as many centers prioritize pediatric patients. Structured transition into adult care is essential to maintain metabolic stability, adherence, and monitor comorbidities - particularly psychiatric ones. This study evaluates metabolic control, quality of life (QoL), and the impact of psychiatric comorbidities in adults with PKU after transition.

Methods: This retrospective study included 45 adults with PKU assessed 4.5 years after entering adult care. Data from transition and annual follow-ups were analyzed. Phenylalanine (Phe) concentrations were assessed using venous blood samples and dried blood spots. Dietary habits and amino acid mixtures (AAM) intake were recorded via interviews. QoL was measured with the PKU-QOL (0-100; lower scores indicate better QoL) and WHO-5 (0-25, higher scores indicate better well-being). Comorbidities were obtained from medical records.

Results: Mean Phe concentration remained stable (998.3 ± 290.4µmol/l). Adherence to low-protein diet increased from 77.8% to 100%, and AAM intake from 62.5% to 85.8% over 4.5 years. Consistent AAM use (≥ 3x/day) and adherence to low-protein diet were each associated with lower Phe levels compared to no AAM or no diet (- 362.9µmol/l and - 304.1µmol/l, p < 0.05). Overall, 89% had comorbidities, most commonly psychiatric disorders (31%). These individuals showed higher Phe levels (1169µmol/l vs. 823µmol/l, p < 0.05), lower dietary adherence (33% vs. 70%, p < 0.01), and greater QoL impairment.

Conclusion: Structured transition into adult care supports metabolic stability. However, psychiatric comorbidities are strongly linked to poorer adherence and worse metabolic and psychosocial outcomes. Integrating psychological support into adult PKU care is therefore essential.

Synopsis: A structured transition into adult care can support the maintenance of metabolic control and quality of life in adults with PKU, especially given the high prevalence of psychiatric comorbidities, which can negatively affect adherence.

Introduction: Gaucher disease (GD) is a lysosomal storage disorder characterized by glucosylceramide accumulation, which may lead to liver fibrosis and cirrhosis. Enzyme replacement therapy (ERT) could reverse fibrosis. This study aimed to assess liver and spleen stiffness and hepatic steatosis in adult type 1 GD patients receiving ERT, using transient elastography (TE) (Fibroscan®).

Method: Twenty-five type 1 GD patients were evaluated pre- and post-ERT. TE findings of GD patients on ERT were compared cross-sectionally with a control group. Liver fibrosis was defined as ≥7 kPa, and significant steatosis was defined as a Controlled Attenuation Parameter (CAP) measurement ≥ 250 dB/min. Associations between TE findings and clinical, metabolic, genetic characteristics, FIB4 (fibrosis 4) and APRI (AST to platelet ratio index) scores, were investigated.

Results: Fifty-six percent of GD patients were female, with a median disease duration of 13 years. Post-ERT, body weight (57.3 vs. 63.6 kg, p < 0.001), body mass index (22 vs. 23.8 kg/m², p < 0.001), and metabolic syndrome (MetS) prevalence (12% vs. 40%, p = 0.016) were increased. Hepatic steatosis was more frequent (32% vs. 16%). Liver fibrosis was present in 44% of GD patients, but in none of the controls. GD patients exhibited significantly higher liver (6.6 vs. 3.7 kPa; p < 0.001) and spleen stiffness (17.6 vs. 11.1; p = 0.032). Liver fibrosis was positively correlated with ALT, GGT, ferritin levels, disease duration, and delayed initiation of ERT.

Conclusion: Although ERT improved fibrosis-related parameters, GD patients demonstrated higher liver and spleen stiffness. Elevated ferritin levels, longer disease duration, and delayed initiation of ERT were associated with liver fibrosis. Additionally, increased metabolic syndrome prevalence post-ERT may contribute to the development of hepatic steatosis in this patient population.