Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin administration. While a similar urine exosome release rate was shown between probands and controls by western blotting for the marker ALIX, there was a selective decrease in exosome aquaporin-2 versus aquaporin-1 protein in probands compared to controls.
Most children treated for obstructive sleep disordered breathing (oSDB) are not systematically assessed by polysomnography (PSG) nor by structuredsymptom quantification before surgical treatment. The main objective of this study wasto investigate the effect of adeno-tonsillotomy (ATO) on symptom burden and PSGparameters.
We investigated the circadian rhythm of solute excretion and regulating hormones as well as blood pressure in patients with monosymptomatic nocturnal enuresis.We included 15 patients with a mean age +/- SE of 13.4 +/- 0.9 years who had monosymptomatic nocturnal enuresis with at least 3 wet nights weekly and a control group of 10 healthy children with a similar age and sex distribution. During inpatient circadian studies urine was collected during 6 periods and blood was drawn at 7 time points during 24 hours. Heart rate and blood pressure was recorded with an ambulatory blood pressure monitor every 30 to 60 minutes.The total patient group excreted a significantly larger nocturnal urine volume than controls (p <0.01). Five patients had marked nocturnal polyuria (nocturnal urine volume greater than the mean in the control group +2 SD), whereas urine output in the remaining patients without polyuria were similar to controls. Nocturnal polyuria was caused mainly by increased nocturnal solute excretion, especially Na. Serum aldosterone and plasma angiotensin II showed a marked circadian rhythm in normal children with a nocturnal increase concomitant with a significant decrease in mean arterial blood pressure during sleep. In contrast, the group of patients with nocturnal polyuria showed a lack of circadian rhythm in all excretion variables as well as an attenuated rhythm in plasma angiotensin II and mean arterial blood pressure. Interestingly this group had normal circadian rhythms of the circadian rhythm markers plasma cortisol and heart rate.The study suggests that an abnormally large nocturnal excretion of Na caused by selectively attenuated circadian rhythms of Na regulating hormones might be an important pathogenic factor in monosymptomatic nocturnal enuresis.
Article A Novel AVP-Neurophysin Gene Mutation in Familial Neurohypophyseal Diabetes Insipidus Presenting with Nocturnal Enuresis was published on April 1, 2001 in the journal International Journal on Disability and Human Development (volume 2, issue 2).
We describe a case of pelvic narrowing in a patient with osteogenesis imperfecta (OI) type III and complications consisting of deep venous thrombosis, hydronephrosis and faeculomas. The literature is reviewed and the management is discussed. Conclusion: Monitoring of OI type III patients for pelvic narrowing and complications is recommended.
Forty-two children with nocturnal enuresis (27 with primary, 4 with secondary nocturnal enuresis and 11 with combined primary nocturnal enuresis and daytime wetting) were selected retrospectively from a study of 167 consecutive children with enuresis. The aim of the study was to collect formal genetic data, perform molecular genetic linkage-analyses with five microsatellite markers on chromosomes 13q, 12q or 8q and specify the associations between genetic findings and clinical, as well as psychiatric diagnoses. Positive linkage of nocturnal enuresis to one of the microsatellite markers was possible in 27 children from 23 families and was not possible in 15 children. Somatic findings in both the groups with and without possible assignment of nocturnal enuresis to a marker were heterogeneous. Psychiatrically, a low rate of behavioural problems was apparent. These findings support the hypothesis of genetic and phenotypical heterogeneity of nocturnal enuresis, without linkage of specific psychiatric and somatic phenotypes to certain chromosome markers.
'/%3e%3cuse xlink:href='%23a' transform='rotate(23.036 .093 25.536)'/%3e%3cuse xlink:href='%23a' transform='rotate(45.87 1.273 16.18)'/%3e%3cuse xlink:href='%23a' transform='rotate(69.945 .996 12.078)'/%3e%3cuse xlink:href='%23a' transform='rotate(20.66 -19.689 31.932)'/%3e%3c/svg%3e)