ReviewJournal of the American Society of Nephrology : JASN2016
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.
Review in Journal of the American Society of Nephrology : JASN, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers.
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Who cites it
95 citing papers in PubMed, 150 citations in OpenAlex.
- Genetic kidney diseases: Decoding molecular taxonomies to drive precision nephrology and therapeutic innovation.Genes & diseases · 2027Review
- Hypomagnesemia in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome Caused by Pathogenic Variants ofKidney international reports · 2026Article
- Horseshoe kidney and polycystic horseshoe kidney: a forensic autopsy-based study in Portugal.International urology and nephrology · 2026Article
- Review
- Ten tips for ordering, interpreting, and communicating genetic test results in nephrology.Clinical kidney journal · 2026Review
- Rare Combination of PKD and precocious puberty in a HNF1B mutated little girl.Urology case reports · 2026Article
- HNF1B nephropathy: for which congenital renal anomalies is genetic analysis advisable?Pediatric nephrology (Berlin, Germany) · 2026Article
- Review
- Functional validation of a non-canonical HNF1B splice-site variant in MODY5.Frontiers in endocrinology · 2026Article
- MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.Genes · 2025Review
- Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.Frontiers in medicine · 2025Article
- Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease.Frontiers in genetics · 2025Article
- Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review.Case reports in medicine · 2025Article
- Pediatric Hepatocyte Nuclear Factor 1B (Pediatric diabetes · 2025Article
- Genetic determinants of renal scarring in children with febrile UTI.Pediatric nephrology (Berlin, Germany) · 2024Article
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- Genetic and radiological aspects of pediatric renal cystic disease: A case seriesBiomedica : revista del Instituto Nacional de Salud · 2024Article
- HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.Genes · 2024Article
- Description of a New Simple and Cost-Effective Molecular Testing That Could SimplifyKidney international reports · 2024Article
- A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.Children (Basel, Switzerland) · 2024Article
35 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a recently recognized clinical entity with a variable multisystem phenotype. Early reports described an association between HNF1B mutations and maturity-onset diabetes of the young. These patients often presented with renal cysts and renal function decline that preceded the diabetes, hence it was initially referred to as renal cysts and diabetes syndrome. However, it is now evident that many more symptoms occur, and diabetes and renal cysts are not always present. The multisystem phenotype is probably attributable to functional promiscuity of the HNF1β transcription factor, involved in the development of the kidney, urogenital tract, pancreas, liver, brain, and parathyroid gland. Nephrologists might diagnose HNF1β-associated kidney disease in patients referred with a suspected diagnosis of autosomal dominant polycystic kidney disease, medullary cystic kidney disease, diabetic nephropathy, or CKD of unknown cause. Associated renal or extrarenal symptoms should alert the nephrologist to HNF1β-associated kidney disease. A considerable proportion of these patients display hypomagnesemia, which sometimes mimics Gitelman syndrome. Other signs include early onset diabetes, gout and hyperparathyroidism, elevated liver enzymes, and congenital anomalies of the urogenital tract. Because many cases of this disease are probably undiagnosed, this review emphasizes the clinical manifestations of HNF1β-associated disease for the nephrologist.
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