ArticleCureus2026
When Dark Urine Is Not Nephritis: A Life-Threatening Case of Lipin-1 Deficiency in Infancy.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
Lipin-1 deficiency is a rare inherited metabolic disorder and a major genetic cause of severe, recurrent rhabdomyolysis in early childhood, carrying a significant risk of acute kidney injury and mortality if unrecognized. We report the case of a male toddler who first presented at 19 months of age with dark urine and intercurrent viral illness. Initial investigations demonstrated hematuria/myoglobinuria, proteinuria, and markedly elevated transaminases, leading to a presumptive diagnosis of glomerulonephritis. Creatine kinase (CK) was not measured at that time, and the episode was retrospectively felt to represent missed rhabdomyolysis. The patient subsequently presented similarly with abdominal pain and dark urine when profound rhabdomyolysis was identified by checking CK (CK >120,000 U/L). Aggressive hyperhydration led to biochemical improvement, and genetic testing confirmed a homozygous pathogenic
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