ArticleClinical nephrology. Case studies2026
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review.
Article in Clinical nephrology. Case studies, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
background17q12 microdeletion syndrome is a rare genetic disorder distinguished by diabetes, urogenital abnormalities, pancreatic hypoplasia, and neuropsychiatric developmental anomalies, with hyperuricemia being an infrequent occurrence. We present a unique case of 17q12 microdeletion, encompassing 17 protein-coding genes such as HNF1B, AATF, and DDX52 (3A:0), marking the first documented instance globally. CASE REPORT: An 18-year-old female patient was hospitalized due to persistent right upper abdominal pain for more than a month. She exhibited a normal body mass index and no familial medical history. Biochemical analysis indicated liver impairment, hyperlipidemia, hypomagnesemia, hyperuricemia, and glucose intolerance. Renal ultrasound displayed numerous renal cysts, while a liver biopsy confirmed the presence of non-alcoholic fatty liver disease. Given the early onset of metabolic syndrome, whole-exome sequencing (WES) was conducted on the patient and her parents.
resultsBy WES and copy number variation verification, the patient was identified as having a de novo heterozygous deletion of one copy in the 17q12 region (34807034-36285028), encompassing 17 protein-coding genes including HNF1B, AATF, and DDX52 (3A:0). Tubulointerstitial lesions are the predominant feature of HNF1B-related renal disease, with hyperuricemia showing limited predictive value despite its common occurrence. Hypomagnesemia is a significant clinical indicator in HNF1B mutation-related conditions.
conclusionHyperuricemia, hypomagnesemia, and multiple renal cysts can manifest as renal symptoms of the microdeletion in the 17q12 region, with the spectrum of extra-renal manifestations continually expanding. For young patients exhibiting the above metabolic issues, WES is recommended for precise diagnosis.
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