Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 13-year-old girl presented with the gradual onset of bilateral visual changes. She was initially diagnosed with idiopathic cataracts, but a medical evaluation revealed new-onset type 1 diabetes mellitus with ketosis. The patient was hospitalized and started on a regimen of insulin before discharge and eventual surgical correction of her cataracts. Cataracts are an uncommon initial manifestation of new-onset type 1 diabetes, occasionally in the absence of other more classic symptoms of diabetes. Pediatric patients presenting with bilateral cataracts should be evaluated for a underlying etiology of their cataracts before being referred for surgical correction.
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PMID:Cataracts as the initial manifestation of type 1 diabetes mellitus. 2129 23

Paediatric cataracts can present a diagnostic dilemma to ophthalmologists. Next-generation DNA sequencing (NGS) has been promoted as a tool to expedite the diagnosis of an underlying cause in such cases.1 The authors present an unusual case of bilateral cataracts in an 11-year-old girl as the first presenting feature of new type 1 diabetes mellitus. Prompt diagnosis and subsequent management of this potentially life-threatening condition were achieved through careful history taking and targeted biochemical testing. The authors feel this case highlights the significance of simple measures such as thorough history taking in the assessment of paediatric cataracts. It is important that these skills are not lost through the availability of clinical tools such as NGS.
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PMID:Bilateral cataracts as the presenting feature of type 1 diabetes in an 11-year-old girl. 3011 19