Kidneys, pancreas and diabetes (the HNF1B side)
The most medically actionable part of the condition: structural kidney differences, reduced kidney function, and HNF1B-MODY diabetes. All are screenable, and screening changes outcomes.
The kidney and diabetes features come mostly from losing one copy of HNF1B, a gene that acts as a master switch during the development of the kidneys, urinary tract, pancreas and liver.
Kidneys. They may be smaller, cystic, formed in the wrong place, fused, or there may be only one. Some people develop high blood pressure, protein in the urine, gout-like problems from low magnesium or high urate, and a minority progress to kidney failure requiring dialysis or transplant. Many people never reach that point - the point of monitoring is to catch the ones who do, early.
Diabetes. HNF1B-related diabetes (previously MODY5) is not the common type 1 or type 2. It usually appears in the teens to forties, is caused by problems in insulin production rather than autoimmunity, and can be mistaken for type 1 or type 2. Getting the label right matters: it changes treatment (some people do well on tablets rather than insulin) and it means relatives should be tested.
Pancreas and liver. The pancreas can be underdeveloped or not make enough digestive enzymes (bloating, greasy stools, poor weight gain), and some people get unexplained abdominal pain or raised liver enzymes. Both are treatable once recognised - enzyme replacement tablets help a lot.
Freshest finding: A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
What monitoring usually looks like
Published management recommendations (GeneReviews and renal/developmental clinic series) converge on:
- At diagnosis: renal ultrasound, serum creatinine/eGFR, electrolytes including magnesium, urate,
urinalysis (protein), blood pressure.
- Ongoing (typically annual): blood pressure, eGFR/creatinine, urinalysis, magnesium/urate; renal
ultrasound repeated per nephrology advice (often annually in childhood, less often in stable adults).
- Diabetes screening: fasting glucose and/or HbA1c from around adolescence, repeated annually;
earlier if there is a family history of diabetes or pancreatic anomalies. Gestational diabetes risk is increased in pregnancy.
- Pancreas/liver: liver enzymes, and amylase/lipase if abdominal symptoms; pancreatic imaging if
exocrine insufficiency is suspected (faecal elastase).
- Referral triggers: rising creatinine, new proteinuria, hypertension, recurrent urinary infections,
or persistent abdominal pain.
Diabetes specifics reported in the literature
- Onset is typically adolescence to early adulthood but ranges from infancy to late adulthood.
- It is a beta-cell development defect; islet autoantibodies are negative.
- Some individuals respond to sulfonylureas or metformin; insulin is needed in a subset. Endocrinology
input is recommended rather than empiric type-1/type-2 labelling.
- Pancreatic hypoplasia can coexist, and exocrine insufficiency may need enzyme replacement.
Why relatives get tested
Because a parent or sibling can carry the same deletion silently, cascade testing identifies people who benefit from the same screening - and it is the only intervention in this condition that demonstrably catches problems before symptoms.
What the corpus says, by the numbers
- kidney and urinary tract - mentioned in 371 collected documents (22844 mentions).
Latest evidence in the collected corpus
New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
“In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
“Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose scre”
“The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia,…”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particula”
“Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was…”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
“Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”
“We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.”
“We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative…”corroboration 1 · confidence 97% · updated 2026-11-14 · source
This entry is version 14. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 85% · last updated 2026-11-14 16:44