HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease: A Case Report
Bibliographic record
Abstract
Introduction: Hepatocyte nuclear factor1beta (HNF1B) nephropathy is characterized by hypomagnesemia, hyperuricemia, congenital anomalies of the kidneys and urinary tract (CAKUT), and multiple small cortical cysts without kidney enlargement. It also involves multi-organ manifestations including insulin-deficient diabetes (or maturity-onset diabetes of the young [MODY]), pancreatic exocrine dysfunction, liver dysfunction and neurodevelopmental abnormalities including autism spectrum disorder (ASD). We present a rare case of HNF1B nephropathy with atypical large kidney cysts mimicking autosomal dominant polycystic kidney disease (ADPKD). Case Description: A 37-year-old male with ASD initially presented with hypertensive emergency. The patient reported occasional flank pain and distension but no other symptoms. The patient was estranged from his father, and his mother had normal kidney function without cysts. There was no known history of kidney failure, aneurysms, or sudden death in his extended family. Physical examination revealed distended abdomen with palpable organomegaly. Laboratory results showed elevated creatinine levels (2.41 mg/dl) and reduced eGFR (33 ml/min/1.73 m2) with an eGFR decline of 5 ml/min/1.73 m2 in the last year. Fasting blood glucose levels and liver function tests were normal. CT showed innumerable bilateral kidney cysts, the largest of which measured 19 cm on the right and 12 cm on the left, and an enlarged spleen. An initial diagnosis of de novo ADPKD was suspected. Genetic testing of PKD1 and PKD2 found no responsible variant, leading to a broader cystic gene panel sequencing. A heterozygous 1.26 Mb deletion (chr17:g.34842466_36104935del), encompassing whole HNF1B gene was detected. Cascade screening showed that the patient's mother was unaffected. Discussion: HNF1B nephropathy displays substantial phenotypic heterogeneity. We present a case of HNF1B nephropathy clinically mimicking ADPKD with extreme kidney enlargement and loss of kidney function, without hypomagnesemia, hyperuricemia, or MODY. Phenocopies are not uncommon, and this case further exemplifies the role of genetic testing to obtain a concrete diagnosis. This case report contributes to the understanding of phenotypic variability in HNF1B nephropathy and emphasizes the importance of considering this diagnosis in patients with large kidney cysts.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.003 | 0.002 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.005 | 0.003 |
| Science and technology studies | 0.004 | 0.002 |
| Scholarly communication | 0.003 | 0.003 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.007 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".