HNF1B-related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges

Clicks: 2
ID: 315644
2026
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #61 of 127 articles by views in clinical kidney journal

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 127 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Abstract Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes. Recent research has expanded our understanding of HNF1B’s role in human development. It reveals critical involvement in renal, pancreatic, hepatic, genitourinary, and neurological organogenesis. Advances in molecular genetics have highlighted that approximately half of affected individuals carry large 17q12 deletions encompassing HNF1B and neighboring genes, correlating with broader syndromic features such as intellectual disability, autism spectrum traits, and psychiatric illness. The increasing availability of next-generation sequencing, coupled with copy number variant (CNV) analysis, has improved diagnostic yield. Underdiagnosis remains common due to variable expressivity and phenotypic overlap with more prevalent disorders. Notable progress has been made in dissecting tissue-specific roles of HNF1B. Patient-derived iPSC models and single-cell transcriptomics offer new insights into early developmental pathways and transcriptional networks. These tools enable organoid-based studies and the potential discovery of therapeutics. Clinically, awareness of symptoms, such as renal cysts, persistent hypomagnesemia, pancreatic hypoplasia, and non-autoimmune diabetes, has led to the development of diagnostic scoring systems and multidisciplinary care algorithms. Although current treatment remains supportive, research into gene regulation, epigenetic modifiers, and pharmacologic rescue strategies is ongoing. HNF1B-related disease illustrates how pleiotropic gene dysfunction can present with diverse organ involvement. Integrating genomics, developmental biology, and targeted surveillance may help improve early diagnosis and patient outcomes.
Reference Key
openalex_W7163332149 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Petr Heneberg
Journal clinical kidney journal
Year 2026
DOI
10.1093/ckj/sfag185
URL
https://doi.org/10.1093/ckj/sfag185
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.