Publications by authors named "Ornella De Prisco"

Article Synopsis
  • - The case study examines an 18-year-old patient with hyperuricemia, highlighting their family history of hyperuricemia without neuropsychiatric disorders, and lack of renal issues despite significant developmental delays and anxiety disorders.
  • - Genetic analysis revealed a deletion on chromosome 3 (paternal) affecting the ROBO2 gene, associated with vesicoureteral reflux, and a duplication on chromosome 1 (maternal) involving multiple genes, including NLRP12, which may relate to hyperuricemia.
  • - The authors suggest that the identified genetic mutations might link hyperuricemia and neurological issues, proposing a common genetic deficiency in such patients.
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The Lennox-Gastaut Syndrome (LGS) is a childhood epileptic encephalopathy. Incidence: 1/1.000.

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Gabapentin (GBP) is a drug with different indications.Is not metabolized and is excreted by the kidney. The common side effects are: arthralgia, myalgia, fatigue, dizziness and ataxia.

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Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum.

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Nowadays the choice to start with a renal replacement therapy (or its withdrawal once begun) is a critical issue leading to review the paradigm of constantly treating terminal uremia by means of dialysis technologies, without caring for effective prognosis nor for patients preferences, in a more affordable physician-patient relationship. Furthermore dialysis patients mean age is increasing and such population bears the burden of comorbidities that seriously affect survival and quality of life. In any case, dialysis withdrawing does not mean neglecting the patient: the start, or continuation of a very low protein diet program may represent a reasonable alternative, not only for uremic symptoms control but also providing a slowing of disease progression (at least postponing further the start of renal replacement therapy).

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