333 - Retrospective Assessment Of Hepatic Involvement In Patients With Inherıted Metabolism Disorders: Nine-Year Single-Center Experience

Publication Number: 333.6340

Samira Bayramova, Ankara University , Children's Hospital, ankara, Ankara, Turkey; Merve Koç Yekedüz, Ankara University, ankara, Ankara, Turkey; Engin Köse, Ankara University, Ankara, Ankara, Turkey; Tuba Eminoglu, ankara university, Ankara, Ankara, Turkey

Background: Inherited metabolic diseases (IMDs) are single gene disorders caused by enzymatic defects in metabolic pathways in which cumulative incidence is estimated as high as 1/800. IMDs include a heterogeneous group of conditions that can affect multiple organs, including the liver.

Objective: In this study, we aimed to identify some clinical, laboratory, and radiological features that could serve as red flags for diagnosing inherited metabolic disorder in cases with hepatic involvement in childhood.

Design/Methods: A retrospective review was made of the medical records of 1,237 children being followed up in a pediatric metabolism department who had been diagnosed with or were suspected of having an IMD. Included in the study were patients with hepatic involvement who were divided into two groups, namely: Group 1, comprising cases diagnosed with an IMD, and Group 2, comprising patients who could not be diagnosed with an IMD. The demographic, clinical, laboratory and radiological data of the two groups were compared.

Results: Of the 1,237 patients enrolled in the study, hepatic involvement was determined in 415 (33.5%), of which 206 (49.2%) were under follow-up with a diagnosis of IMD. The consanguineous marriage rate, sibling with diagnosed IMDs and dead sibling of Group 1 was higher than Group 2. It was seen that the most common group was inherited metabolic disorders of complex molecules (20.4%). Mitochondrial disorders (16.0%) and lipid metabolism disorders (16.0%) were in second place. Dysmorphic findings were detected more in Group 1 than in Group 2 (28.2% vs 16.3%, p=0.004). Diarrhea was occured less in Group 1 than in Group 2 (4.4% vs 12.0%, p=0.005). Ammonia level and serum lactate level were higher in Group 1 than in Group 2 (240±422 vs 51.2±39, p< 0.001 and 34±76 vs 17.3±10.8, p:0.032, respectively). Hepatomegaly was detected more frequently in Group 1 than in Group 2 (53.3% vs 22.6% p< 0.001). At least one pathological finding on abdominal USG was the only significant laboratory parameter in multivariate analysis (OR: 89.377, 95%CI:1.722-4639.048, p=0.026). The overall survival was 87.7%, and there was no difference between Group 1 and Group 2.

Conclusion(s): The consanguineous marriage in parents, presence of a sibling with a diagnosis of inherited metabolic disorder, presence of dysmorphic findings, the absence of diarrhea, at least one finding on abdominal ultrasonography were found to be the most significant parameters to predict an IMD.