BACKGROUNDAs an X-linked recessive way, arginine vasopressin receptor 2 (AVPR2) gene mutation resulted in a hereditary disease - congenital nephrogenic diabetes insipidus (CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis.

METHODSThe clinical features of the proband and his family members were recorded. The laboratory tests and imaging inspections were analyzed. The water deprivation and pituitrin loading test were performed in the proband and his brother. The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out. Sequencing in both directions was performed to identify mutation on AVPR2 gene.

RESULTSBoth the proband and his brother were diagnosed as CNDI, meanwhile the other members of this pedigree were normal. No severe biochemical abnormality was found in the two CNDI patients. Both the patients had moderate urinary retention, severe megaloureter and hydronephrosis, and mild renal insufficiency. Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients, a silent mutation L309L and a nonsense mutation R337X. The AVPR2 gene R337X mutation was co-segregated with CNDI. R337X mutation was not a reported mutation in the mainland of China.

CONCLUSIONThe AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China.

Adult ; Diabetes Insipidus, Nephrogenic ; genetics ; Female ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Vasopressin ; genetics ; Vasopressins ; genetics

OBJECTIVETo probe the mechanism of acupuncture in treatment of dysmenorrhea.

METHODSAdult mice with no pregnancy were randomly divided into a normal group, a model group, an acupuncture group and a medication group. The model group, the acupuncture group and the medication group were modeled by Diethylstilbestrol and Ocytocin. For the acupuncture group, at the 7th day of modeling, acupuncture was given at "Sanyinjiao" (SP 6), "Diji" (SP 8), once a day, for 5 days; and at the 7th day of modeling, Yimucao Gao 0.6 mg/g was given intragastrically to the medication group for 5 days. The stretching latent period and the number of stretching within 30 min were observed, and mRNA levels of ocytocin receptor (OctR) and vasopressin receptor (VasR) in the uterus tissue were detected with RT-PCR method.

RESULTSCompared with the model group, the stretching latent period extended (P < 0.05) and the number of stretching within 30 min significantly decreased (P < 0.05); and there were significant differences in the mRNA levels of ocytocin receptor and vasopressin receptor in the uterus tissue in the model group as compared with those in other 3 groups (P < 0.05, P < 0.01).

CONCLUSIONAcupuncture can improve the dysmenorrheal symptom to a certain extent, and the mechanism is possibly related to regulative effects of acupuncture on hormones-mediating receptors in mice.

Acupuncture Therapy ; Animals ; Dysmenorrhea ; metabolism ; therapy ; Female ; Mice ; RNA, Messenger ; analysis ; Receptors, Oxytocin ; genetics ; Receptors, Vasopressin ; genetics

OBJECTIVE: To detect potential variant in a male neonate affected with congenital nephrogenic diabetes insipidus (CNDI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the child and his parents. The whole coding regions of the arginine vasopressin V2 receptor (AVPR2) gene were amplified by PCR and subjected to Sanger sequencing. RESULTS: The patient presented recurrent fever and polyuria after birth. Multiple blood gas analyses indicated hypernatremia. Ultrasound showed bilateral hydronephrosis and hydroureter. The patient was partially responsive to hydrochlorothiazide. DNA analysis identified a hemizygous frameshift variant c.890-899delACCCGGAGGC in exon 2 of the AVPR2 gene in the proband. His mother was heterozygous for the same variant. CONCLUSION The c.890-899delACCCGGAGGC variant of the AVPR2 gene probably underlies the CNDI in the child. Above discovery has enriched to spectrum of CNDI associated variants.
Adult ; Diabetes Insipidus, Nephrogenic/genetics* ; Exons ; Female ; Frameshift Mutation ; Humans ; Hydrochlorothiazide/therapeutic use* ; Infant, Newborn ; Male ; Pedigree ; Receptors, Vasopressin/genetics*

Most cases of hydronephrosis are caused by urinary tract obstruction. However, excessive polyuric syndrome rarely gives rise to non-obstructive hydronephrosis, megaureter, and a distended bladder. The authors report here on two cases of congenital nephrogenic diabetes insipidus (NDI) with severe bilateral hydronephrosis and megaureter. It is Interesting that the patients were symptomless except for their polyuria, and they both presented with bilateral hydronephrosis. Fluid deprivation testing revealed the presence of AVP resistant NDI. Gene analysis for these patients showed the AVP receptor 2 (V2R) missense mutations (Q225X and S126F), which have previously been reported on in other studies. We made the diagnosis of NDI by using a physiologic test, and we confirmed it by mutation analysis of the V2R gene.
Receptors, Vasopressin/*genetics ; Polyuria/complications/diagnosis/genetics ; Mutation, Missense ; Male ; Hydronephrosis/complications/*diagnosis/genetics ; Humans ; Diabetes Insipidus, Nephrogenic/complications/*diagnosis/genetics ; DNA Mutational Analysis ; Adult

OBJECTIVETo detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI).

METHODSClinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced.

RESULTSThe patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation.

CONCLUSIONThe congenital NDI in the patient was probably due to mutation of the AVPR2 gene.

Adolescent ; Base Sequence ; DNA Mutational Analysis ; Diabetes Insipidus, Nephrogenic ; congenital ; genetics ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Vasopressin ; genetics

OBJECTIVE: To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI). METHODS: Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results. RESULTS: The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic. CONCLUSION AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.
Aquaporin 2/genetics* ; Child ; Diabetes Insipidus, Nephrogenic/genetics* ; Diabetes Mellitus ; Humans ; Infant, Newborn ; Male ; Molecular Biology ; Mutation ; Pedigree ; Receptors, Vasopressin/genetics*

OBJECTIVETo observe the influence of silencing Connexin43 (Cx43) expression of partial acupoints on acupuncture effect, so as to probe into the mechanism of acupuncture treatment for primary dysmenorrhea.

METHODSThe primary dysmenorrheal rat model made by oxytocin and RNA interference (RNAi) technology was used to silence the expression of Cx43 in acupoints. Fifty SD female rats were divided into five groups, a normal group (N), a model group (M), an acupuncture group (A), an acupuncture plus interference group (A+I), an acupuncture plus interference control group (A+IC). RT-PCR method was used to observe the oxytocin receptor (OTR) and vasopressin receptor (VPR) mRNA expressions in the uterus in each group. Plasma prostaglandin E2 (PGE2) and PGF2alpha levels were detected by radioimmunoassay and ELISA, respectively.

RESULTS(1) The times of writhing body (9.43 +/- 3.87 and 10.28 +/- 4.23) were significantly lower and the latency period of writhing body (12.43 +/- 3.46, 11.00 +/- 3.65) were longer in the group A and the group A+IC as compared with (15.43 +/- 5.13, 17.00 +/- 3.87) and (7.57 +/- 1.99, 8.43 +/- 2.57) in the group M and group A+I (P < 0.05), respectively. (2) The levels of Cx43 mR NA level and protein expression of acupoint in the group A+I were significantly lower than those of the group N (P < 0.05). (3) OTR and VPR mRNA in the uterus in the group A and the group A+IC were significantly lower than those in the group M and the group A+I (P < 0.05), with no significant difference between the group M and the group A+I (P > 0.05). (4) As compared with the group M, PGE2 level increased and PGF2alpha level decreased in the group A and the group A+IC (P < 0.05).

CONCLUSIONSilencing Cx43 expression of partial acupoint can inhibit effectively the effect of acupuncture through decreasing OTR and VPR in endometrium of the dysmenorrheal rat and adjusting the prostaglandins (PGs) synthesis system, which possibly is one of the mechanisms of acupuncture for treatment of primary dysmenorrhea.

Acupuncture Points ; Acupuncture Therapy ; Animals ; Connexin 43 ; genetics ; metabolism ; Dinoprost ; blood ; Dinoprostone ; blood ; Dysmenorrhea ; genetics ; metabolism ; therapy ; Female ; Gene Expression ; Humans ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Receptors, Oxytocin ; genetics ; metabolism ; Receptors, Vasopressin ; genetics ; metabolism ; Uterus ; metabolism

No abstract available.
Adult ; DNA Mutational Analysis ; Diabetes Insipidus, Nephrogenic/*complications/diagnosis/genetics/therapy ; Disease Progression ; Genetic Predisposition to Disease ; Humans ; Kidney Failure, Chronic/diagnosis/*etiology ; Male ; Mutation ; Phenotype ; Receptors, Vasopressin/genetics ; Renal Dialysis ; Tomography, X-Ray Computed