Comment On Dubois-Laforgue Et Al. Diabetes, Associated Clinical Spectrum, Long-Term Prognosis, And Genotype/Phenotype Correlations In 201 Adult Patients With Hepatocyte Nuclear Factor 1b (Hnf1b) Molecular Defects. Diabetes Care 2017;40:1436-1443

DIABETES CARE(2018)

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摘要
We read with interest the large and impressive study by Dubois-Laforgue et al. (1) describing the phenotype, long-term follow-up, and genotype/phenotype correlations in 201 adults with hepatocyte nuclear factor 1B (HNF1B)-associated disease. They report that patients with an HNF1B mutation have a worse renal prognosis than those with a 17q12 deletion, as they had a higher frequency of chronic kidney disease stages 3–4/end-stage renal disease and a lower median estimated glomerular filtration rate (eGFR) at follow-up (42.5 vs. 75 mL/min/1.73 m2, respectively; P = 0.008). The article did not comment on the fact that similar results have previously been found in two …
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