{
  "abstract": "Introduction Type I primary hyperoxaluria is a rare autosomal recessive metabolic disorder caused by hepatic alanine-glyoxylate aminotransferase deficiency, leading to excessive oxalate production resulting in nephrolithiasis, nephrocalcinosis, end-stage renal disease, and systemic oxalosis. Definitive treatment is sequential or combined liver–kidney transplantation, where liver replacement corrects the metabolic defect and kidney transplantation restores renal function. We aimed to evaluate clinical characteristics and transplant outcomes of patients undergoing sequential liver with or without kidney transplantation in a resource-limited setting where diagnostic delay is common.Methods We retrospectively analyzed patients with primary hyperoxaluria who underwent liver transplantation with or without kidney transplantation at a tertiary care transplant center. The variables in our study are demographics, age at renal stone onset, diagnostic delay, age at time of liver transplant, prior urological interventions, duration of hemodialysis pre-liver transplant, graft-recipient weight ratio (GRWR), cold ischemia time, liver graft type, biliary ductal anatomy (single duct vs ductoplasty), cardiac involvement, one-year survival, liver-to-kidney transplant interval, and causes of mortality. Continuous variables are reported as mean ± standard deviation and categorical variables as frequencies and percentages.Results Fourteen patients were included, with a mean age at transplantation of 24.1 ± 11.4 years; 12 (85.7%) were male. Mean age at first renal stone was 10.79±8.78 years, while mean age at diagnosis was 23.29±11.17 years, resulting in a mean diagnostic delay of 11.89±13.40 years. Prior urological interventions were present in 11(78.6%). Mean duration of hemodialysis prior to liver transplantation was 17.07±9.07 months. Living donor liver transplantation was performed in all patients; mean GRWR was 1.26±0.72 and mean cold ischemia time was 35.71±18.80 minutes. Most grafts had single bile duct anatomy, with ductoplasty required in a minority. Cardiac involvement was common and predominantly manifested by diastolic dysfunction and pulmonary hypertension, with less frequent non-ischemic cardiomyopathy and largely preserved systolic function. One-year survival after liver transplantation was 10(71.4%). Mortality occurred early and was primarily attributable to sepsis, cardiac complications, and multiorgan failureConclusion When contrasted with European registry cohorts that register earlier diagnosis and >85% one-year survival, patients in low-middle income settings present later with prolonged dialysis exposure and cardiac involvement yet can achieve acceptable short-term outcomes. Early metabolic screening, reduced diagnostic delay, and rigorous cardiac stratification may help to improve outcomes.",
  "authors": [
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Swaiba Samar"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Bilal Ahmad Shoukat"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Yumnah Riaz"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Ammara Naveed"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Ihsanul Haq"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Adil Manzoor"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Ahmad Karim Malik Ahmad Karim Malik"
    },
    {
      "affiliations": [
        "Pakistan Kidney and Liver Institute and Research Center, Lahore, Pakistan"
      ],
      "name": "Usman Iqbal Aujla"
    }
  ],
  "title": "P102 From stone disease to survival: sequential liver and kidney transplantation for type i primary hyperoxaluria in a resource-limited setting",
  "uid": "389fbaa3-93b4-5bb7-a157-4e96b44e3f9b"
}