Browsing by Author "Quiroz, Lily"

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    Exploring the clinical and genetical spectrum of ADPKD in Chile to assess ProPKD score as a risk prediction tool
    (2023) Bayyad, Esperanza; Plaza, Anita; Klenner, Jaime; Downey Concha, Patricio; Salas, Paulina; Maragaño, Daniela; Herrera, Patricio; Lehmann, Paula; Quiroz, Lily; Zavala, María J.; Orostica, Karen; Flores, Claudio; Ardiles, Leopoldo; Maturana, Jorge; Krall, Paola
    Background Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition associated primarily with PKD1 and PKD2 genes. However, ADPKD patients in Latin America have had limited access to comprehensive care. The ProPKD score predicts the likelihood of kidney failure before the age of 60. This study aimed to describe the clinical and genetic characteristics of Chilean ADPKD patients and assess the ProPKD score. Methods We enrolled 40 ADPKD probands and 122 relatives from different centers. Genetic analysis of PKD1 and PKD2 genes was performed by combining direct and next-generation sequencing. Pathogenicity was determined using bioinformatic tools. ProPKD scores were calculated based on clinical and genetic data. Results ADPKD probands were diagnosed at a median age of 35 years. Pathogenic, likely pathogenic, or uncertain significance variants were identified in 38/40 pedigrees, with 89% involving PKD1 and 11% involving PKD2 variants. Among the identified variants, 62% were novel. Patients with PKD1 truncating variants had a more severe disease course, reaching kidney failure by a median age of 48.5 years. ProPKD scores were assessed in 72 individuals, stratifying them into high-, intermediate-, or low-risk categories and the median ages for kidney failure were 45, 49, and 52 years, respectively (log-rank p = 0.001). Conclusion This study provides valuable insights into the clinical and genetic profiles of ADPKD patients in Chile. ADPKD poses a significant public health concern, warranting improvements in diagnosis and treatment. The use of the ProPKD score to predict disease progression should be further explored to enhance patient care and management.
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    Management of Anemia in Children Receiving Chronic Peritoneal Dialysis
    (2013) Borzych-Duzalka, Dagmara; Bilginer, Yelda; Ha, Il Soo; Bak, Mustafa; Rees, Lesley; Cano, Francisco; Loza Munarriz, Reyner; Chua, Annabelle; Pesle, Silvia; Emre, Sevinc; Urzykowska, Agnieszka; Quiroz, Lily; Dario Ruscasso, Javier; White, Colin; Pape, Lars; Ramela, Virginia; Printza, Nikoleta; Vogel, Andrea; Kuzmanovska, Dafina; Simkova, Eva; Mueller-Wiefel, Dirk E.; Sander, Anja; Warady, Bradley A.; Schaefer, Franz
    Little information exists regarding the efficacy, modifiers, and outcomes of anemia management in children with CKD or ESRD. We assessed practices, effectors, and outcomes of anemia management in 1394 pediatric patients undergoing peritoneal dialysis (PD) who were prospectively followed in 30 countries. We noted that 25% of patients had hemoglobin levels below target (<10 g/dl or <9.5 g/dl in children older or younger than 2 years, respectively), with significant regional variation; levels were highest in North America and Europe and lowest in Asia and Turkey. Low hemoglobin levels were associated with low urine output, low serum albumin, high parathyroid hormone, high ferritin, and the use of bioincompatible PD fluid. Erythropoiesis-stimulating agents (ESAs) were prescribed to 92% of patients, and neither the type of ESA nor the dosing interval appeared to affect efficacy. The weekly ESA dose inversely correlated with age when scaled to weight but did not correlate with age when normalized to body surface area. ESA sensitivity was positively associated with residual diuresis and serum albumin and inversely associated with serum parathyroid hormone and ferritin. The prevalence of hypertension and left ventricular hypertrophy increased with the degree of anemia. Patient survival was positively associated with achieved hemoglobin and serum albumin and was inversely associated with ESA dose. In conclusion, control of anemia in children receiving long-term PD varies by region. ESA requirements are independent of age when dose is scaled to body surface area, and ESA resistance is associated with inflammation, fluid retention, and hyperparathyroidism. Anemia and high ESA dose requirements independently predict mortality. J Am Soc Nephrol 24: 665-676, 2013. doi: 10.1681/ASN.2012050433