Performance of Echinococcosis Serology is Associated with Disease Endemicity, Hydatid Cyst Location, Eosinophilia, Imaging Finding, and Treatment.

BACKGROUND: We aimed to assess echinococcosis serology performance for diagnosing cystic echinococcosis (CE) in children living in CE-endemic vs. non-endemic populations, and in different clinical settings. METHODS: A retrospective cohort study, assessing children with ELISA test for echinococcosis, 2005-2021. Sensitivity, specificity, positive and negative predictive values (PPV and NPV) were calculated comparing CE-endemic vs. non-endemic populations, cases with/without eosinophilia, and cases with/without CE-suggestive imaging findings. Additionally, we examined the association between serology titers/levels (values) and clinical characteristics. RESULTS: Of 273 cases, 66 (24%) were confirmed as CE. Overall, 97% of CE were in Bedouin children, and the pre-test probability was 28% vs. 9% (p < 0.001) in CE-endemic vs. non-endemic population, respectively. Sensitivity was higher in hepatic than extra-hepatic CE (74% vs. 47%). Overall specificity was 86%. PPVs were higher in CE-endemic population compared to non-endemic (66% vs. 22%), while NPVs were higher in non-endemic population (100% vs. 87%). Eosinophilia was associated with lower specificity (73% vs. 94%) and PPV (47% vs. 78%). Typical imaging was associated with higher specificity (94% vs. 82%) and PPV (91% vs. 11%), while NPVs were lower in typical imaging cases (77% vs. 98%). Higher titer levels (above median) were associated with typical imaging (76% vs. 49%), higher PPV (79% vs. 43%), albendazole treatment (100% vs. 56%), surgery (60% vs. 19%), and new imaging finding (75% vs. 0%). CONCLUSIONS: Echinococcosis serology performance was impacted by disease endemicity, and by various clinical characteristics. These findings may assist physicians in the interpretation of echinococcosis serology results.

Treatment of Cystic Echinococcosis in Children: A Single Center Experience.

BACKGROUND: Cystic echinococcosis (CE) treatment is complicated, relying on cysts characteristics, host factors and possible treatment adverse events. We assessed childhood CE treatment characteristics. METHODS: A retrospective cohort study, 2005-2021, which presents our experience with treating children with CE. We compared therapeutic interventions use in association with the location, size and number of cysts. Additionally, we assessed complications rate following those interventions. RESULTS: Sixty six children had CE; 97% were Bedouins. Overall, 183 cysts were identified in 74 organs: liver (n = 47, 64%), lungs (n = 23, 31%), brain, para-ovarian, kidney and peritoneum (other-grouped, n = 4, 5%). Mean ± Standard deviation largest cyst size (per patient) was 6.6 ± 3.2 cm. Treatment with albendazole was administered to 94% of CE, while albendazole monotherapy was used in 27% (n = 18, including 4 cases with extra-hepatic cysts). Surgical interventions included drainage/puncture, aspiration, injection and reaspiration (PAIR; n = 20), mainly performed in hepatic-CE (40% vs. 4% in pulmonary-CE, and 0% in other-CE), excision and drainage (n = 34) and complete excision (n = 10), mainly done in other-CE (50% vs. 26% and 4% in pulmonary-CE and hepatic-CE, respectively). Larger cyst size was associated with complete excision compared with albendazole monotherapy. The number of cysts was not associated with the chosen intervention. Fever was recorded following 39% of surgical interventions. Local surgical complications were relatively rare. CONCLUSIONS: Cysts location and size affected treatment choice among CE patients. Procedures with drainage had relatively higher rate of complications, including recurrence. Albendazole monotherapy may be a viable therapeutic option in selected CE cases.

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.

BACKGROUND The polycystic kidney and hepatic disease 1 (PKHD1) gene codes for fibrocystin-polyductin, a protein that takes part in cell-signaling for cell differentiation, especially in kidney tubules and bile ducts. A homozygous or compound heterozygous defect in this gene can cause autosomal recessive polycystic kidney disease (ARPKD). Polycystic liver disease (PCLD) can also be caused by single heterozygous variants in the PKHD1 gene. ARPKD presents with renal insufficiency and cystic dilatation of bile ducts, although disease is not expected with a single heterozygous mutation. PCLD presents with multiple cysts in the liver and dilated bile ducts as well, but with less of an impact on the kidneys than with ARPKD. Our purpose in publishing this report is to introduce an as-yet unknown variant to the body of genetic defects associated with ARPKD and PCLD, as well as to argue for the likely pathogenicity of the variant according to the prevailing criteria used for classifying gene variants. CASE REPORT We present a patient with a de novo PKHD1 variant currently classified as a variant of unknown significance manifesting with bilaterally enlarged cystic kidneys and echogenic cystic structures in the hepatic portal system, indicative of cystic disease. CONCLUSIONS Given this patient's liver and kidney presentation that does not fully align with either ARPKD or PCLD, the authors believe that the single heterozygous variant in this patient's PKHD1 gene is worthy of reporting. This new single heterozygous variant in PKHD1 gene causing cystic kidney and cystic hepatic disease in the patient should be considered 'likely pathogenic' according to the criteria set by the American College of Medical Genetics.