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Objective:To explore the clinical characteristics and risk factors of abnormal urinary albumin/creatinine ratio(UACR) in obese population.Methods:Baseline data from 2011 to 2012 in Henan Sub-center of"Risk Evaluation of cAncers in Chinese diabeTic Individuals: A lONgitudinal(REACTION) study"were utilized and those of body mass index≥28 kg/m 2 were screened. The patients were divided into UACR normal group and UACR abnormal group(101 pairs) upon being matched on a 1∶1 basis by age and gender. Multivariate logistic regression analysis, receiver operating characteristic(ROC) curve, and restricted cubic spline(RCS)analysis were performed to explore the risk factors for abnormal UACR. Results:Compared with the normal UACR group, the UACR abnormal group had a higher number of alcohol consumers, a higher prevalence of hypertension, elevated systolic blood pressure, and triglyceride(all P<0.05). Multivariate logistic regression analysis showed that alcohol consumption( P=0.008), systolic blood pressure( P<0.001), triglyceride( P=0.049), and homeostasis model assessment for insulin resistance(HOMA-IR, P=0.033) were independent risk factors for abnormal UACR in obese people. The ROC curve analysis indicated that systolic blood pressure had the strongest diagnostic performance as a single factor(ROC curve area=0.801), and there was no significant difference in diagnostic performance compared to multiple factors combination. RCS analysis results showed that the probability of abnormal UACR increased monotonically with the increase of systolic blood pressure when the systolic blood pressure was between 130 and 158 mmHg(1 mmHg=0.133 kPa). When systolic blood pressure was not in the interval, the probability of abnormal UACR did not change significantly. The results of regression analysis of triglyceride subgroup showed that when triglyceride level was greater than or equal to 5.6 mmol/L, the risk of abnormal UACR level was significantly increased( P=0.029). Conclusion:Systolic blood pressure, triglyceride, HOMA-IR, and alcohol drinking history are independent risk factors for abnormal UACR in obese people. When systolic blood pressure is≥130 mmHg or triglyceride is≥5.6 mmol/L, the risk of abnormal UACR is significantly increased.
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Objective:To investigate the clinical and genetic characteristics, pathogenesis and treatment strategy of congenital nephrogenic diabetes insipidus(CNDI)combined with hyperuricemia.Methods:The clinical manifestations and laboratory data of an infant patient diagnosed as CNDI with hyperuricemia and his family members were collected and retrospectively analyzed. Whole exome sequencing(WES)was applied to detect the proband′s genome variation of each exon and suspected variants of AVPR2 and ABCG2 were verified by PCR-Sanger sequencing of members from his pedigree. Furthermore, we retrospectively collected the serum uric acid levels of patients(≤14-year-old) with CNDI in the First Affiliated Hospital of Zhengzhou University from January 2015 to January 2022.Results:The proband was clinically diagnosed with CNDI and the rest of the family members had no symptoms of polydipsia or polyuria. In addition to the proband, his father was also suffered from hyperuricemia. WES showed that the proband carried a hemizygous AVPR2 gene variation(p.S331R)and a heterozygous ABCG2 gene variation(p.N308K). The former was X-linked recessive inheritance from his mother, and the latter was autosomal dominant inheritance from the father. Fraction excretion of uric acid(FEUA)of the proband and his father with hyperuricemia were 3.1% and 2.7%, respectively. Twelve children(≤14-year-old)were diagnosed with CNDI from the respective study. Among all the cases, 11 patients were male and 1 was female, ranging from 3-month to 14-year-old. Five patients were accompanied with hyperuricemia.Conclusion:Children with CNDI may be complicated with hyperuricemia, and the regimen of hydrochlorothiazide combined with benzbromarone is effective. The pathogenicity of the AVPR2 gene variation(p.S331R)and ABCG2 gene variation(p.N308K)in this pedigree needs to be further studied.
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We reported a case of a patient with Munchausen syndrome who developed severe exogenous thyrotoxicosis due to medication. A 17-year-old female patient was hospitalized because of palpitation and hands tremor lasting for 4 months and intermittent hyperpyrexia lasting for 3months. There were no signs of goiter, exophthalmos or pretibial myxedema. And the laboratory tests showed hyperthyroxinemia, normal thyroid autoantibodies and low serum thyroglobulin level. In addition, the imaging studies revealed decreased uptaking of radionuclides Te-99 in thyroid static imaging and no abnormal mass of pelvic in MRI. However, the patient denied using any medication of thyroid hormone or health products. Later her mother discovered that the patient was secretly taking unidentified substances. The mass spectrometry analysis showed the unknown medications contained levothyroxine sodium. So the final diagnosis were Munchausen syndrome and exogenous thyrotoxicosis. Unfortunately, the patient refused mental and psychological treatment. In the following two years, she had always taken diverse medications and visited many different hospitals. In summary, Munchausen syndrome has various clinical manifestations and poor prognosis. To address the underlying emotional needs of the patient may be an important measure of the treatment.