Introduction:The clinical and genetic characteristics of nephrogenic diabetes insipidus (NDI) were described via assessing 2 cases of NDI patients from a Chinese family.Patient concerns:Two patients who manifest polyuria and polydipsia were admitted to hospital for definite diagnosis.Diagnosis:Water deprivation-vasopressin tests showed that the patients may possess renal-origin diabetes insipidus. All the levels of thyroid-stimulating hormone, luteinizing hormone, follicle stimulation hormone, adrenocorticotropic hormone, prolactin, and growth hormone in both patients were normal. These results were certified that both patients possess a nephropathy-type diabetes insipidus. B-mode ultrasonography and urinalysis test demonstrated that the patient's diabetes insipidus is unlikely to originate from renal organic disease. Remarkably, by nucleotide sequencing, we found a novel mutation c.414_418del in arginine-vasopressin receptor 2 (AVPR2) was related to the disease of NDI.Interventions:Two patients were treated with oral hydrochlorothiazide and indomethacin. In addition, low salt diet and potassium supplementation throughout the patients’ treatment.Outcomes:The clinical symptoms of 2 patients were significantly reduced after targeted therapy.Conclusion:A mutation in AVPR2 was discovered to be associated with NID. It provides a new target for molecular diagnosis of NDI, enabling families to undergo genetic counseling and obtain prenatal diagnoses.
IntroductionDue to functional defects and structural destruction after total laryngectomy, patients experienced the poor quality of life, especially for elderly. The barriers to accessing self-care in elderly patients were considered to result from complex and multifaceted interactions of biologic and social factors. Therefore, specific efforts to improve elderly patients’ quality of life are needed. The purpose of our study is to verify nurse-led coaching of elderly patient self-care approaches, which can reduce logistic burden of patients and obtain the successful functional rehabilitation ultimately.Methods and analysisElderly patients (n=60) scheduled for total laryngectomy will be randomly divided into the intervention group and the control group. Patients in the control group received routinely nursing during hospitalisation and thereby at home after discharge received conventional family care without regular supervision of nurses. Patients in the intervention group will receive a series of self-care intervention based on the transtheoretical model during hospitalisation. During home after discharge, nurses will additionally evaluate and supervise the self-care effect of patients. The two groups of patients’ self-care agency, self-efficacy, quality of life and nutritional status will be recorded separately at different time points. Primary outcome is the improvement of patients’ self-care agency, and secondary outcome is the improvements of patients’ self-efficacy, quality of life, nutritional states and 3-month unplanned readmission rate.Ethics and disseminationThe Ethics Committee of Hubei Cancer Hospital has approved this protocol (KYLLBA2020006). The findings of the trial will be disseminated through peer-reviewed journals, national or international conferences.Trial registration numberChiCTR2100043731.
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