17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication kidney and urinary tract 1 supporting source confidence 97% novelty 75%

HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia

A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.

How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:380. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Pathogenic HNF1B variants may partly mimic hypomagnesaemia found in Gitelman and Bartter syndromes and may be present without other features linked to HNF1B variants, including diabetes mellitus.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
HNF1B variant without hyperglycaemia as a cause of isolated profoun... pmc 2023-01-01 yesterday 1.00