Publications by authors named "P Krall"
Background: Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests or within three months after birth. CNS affects 1-3 per 100,000 children, primarily associated with genetic variants and occasionally with infections. Genetic analysis is the first-line method for diagnosis.
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- * A 3-month-old girl with suspected milk protein allergy showed signs of medullary NC during an ultrasound, and follow-up imaging at 18 months indicated progression of the condition along with genetic analysis revealing PKHD1 variants.
- * While kidney function remained normal until age 7, the increasing incidence of NC in newborns emphasizes the need for early diagnosis and careful clinical monitoring to prevent complications such as kidney failure.
Background: Anemia exhibits complex causation mechanisms and genetic heterogeneity. Some cases result in poor outcomes with multisystemic dysfunction, including renal tubulopathy. Early diagnosis is crucial to improve management.
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