Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.

RATIONALE: Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Hypokalemia, hypomagnesemia, and increased renin-angiotensin-aldosterone system (RAAS) activity can cause glucose metabolism dysfunction. The diagnosis of GS includes clinical diagnosis, genetic diagnosis and functional diagnosis. The gene diagnosis is the golden criterion while as functional diagnosis is of great value in differential diagnosis. The hydrochlorothiazide (HCT) test is helpful to distinguish GS from batter syndrome, but few cases have been reported to have HCT testing. PATIENT CONCERNS: A 51-year-old Chinese woman presented to emergency department because of intermittent fatigue for more than 10 years. DIAGNOSES: Laboratory test results showed hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. The HCT test showed no response. Using next-generation and Sanger sequencing, we identified 2 heterozygous missense variants (c.533C > T:p.S178L and c.2582G > A:p.R861H) in the SLC12A3 gene. In addition, the patient was diagnosed with type 2 diabetes mellitus 7 years ago. Based on these findings, the patient was diagnosed with GS with type 2 diabetic mellitus (T2DM). INTERVENTIONS: She was given potassium and magnesium supplements, and dapagliflozin was used to control her blood glucose. OUTCOMES: After treatments, her fatigue symptoms were reduced, blood potassium and magnesium levels were increased, and blood glucose levels were well controlled. LESSONS: When GS is considered in patients with unexplained hypokalemia, the HCT test can be used for differential diagnosis, and genetic testing can be continued to confirm the diagnosis when conditions are available. GS patients often have abnormal glucose metabolism, which is mainly caused by hypokalemia, hypomagnesemia, and secondary activation of RAAS. When a patient is diagnosed with GS and type 2 diabetes, sodium-glucose cotransporter 2 inhibitors (SGLT2i) can be used to control the blood glucose level and assist in raising blood magnesium.

Development of a prognostic model for 1-year survival after fragile hip fracture in Chinese.

BACKGROUND: No prognostic model for the survival of fragile hip fracture has been developed for Asians. The goal of this study was to develop a simple and practical prognostic model to predict survival within 1 year after fragile hip fracture in Asians. METHODS: A single-center retrospective cohort study was designed. Under a multivariable Cox proportional hazards regression model, we used the preoperative characteristics of patients to predict survival within 1 year after hip fracture. We built a full model and then used the least absolute shrinkage and selection operator (LASSO) method to further shrink the model coefficients and achieved variable screening. Finally, we obtained a LASSO model. The model performance was evaluated with Nagelkerke's R2 and the concordance (c) statistic. We assessed the internal validity with a bootstrapping procedure of 1 000 repetitions. RESULTS: A total of 735 eligible patients were admitted to our department for hip fracture from January 2015 to December 2020, but 11 (1.5%) patients were lost to follow-up. Among the remaining patients, 68 (9.3%) died within 1 year after hip fracture. We identified 12 candidate predictors from the preoperative characteristics of the patients. The last model contained nine predictors: surgery, age, albumin, sex, serum creatinine, malignancy, hypertension, ability to live independently, and cardiovascular and cerebrovascular diseases. Among them, surgery, age, and albumin are effective predictors of survival. The discrimination c statistic of the model is 0.814 (95% confidence interval 0.762-0.865); the corrected value through internal validation is 0.795. CONCLUSIONS: This prognostic model can accurately predict a 1-year survival rate for patients with fragile hip fractures. This information can help clinicians develop a reasonable and personalized treatment plan.