Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVPR2) gene is possible in at-risk newborns with a known family history of X-linked CNDI. In this study, a Swedish male with no family history was diagnosed with CNDI at 6 months of age during an episode of gastroenteritis. We analyzed the coding regions of AVPR2 by PCR and direct DNA sequencing and identified an 80-bp duplication in exon 2 (GenBank NM_000054.4; c.800_879dup) in the proband. This variant leads to a frameshift and introduces a stop codon four codons downstream (p.Ala294Profs*4). The variant gene product either succumbs to nonsense-mediated decay or is translated to a truncated nonfunctional vasopressin V2 receptor. This variant was absent in four unaffected family members, including his parents, as well as in 100 alleles from healthy controls, and is thus considered a novel de novo disease-causing variant. Identification of the disease-causing variant facilitated precise diagnosis of CNDI in the proband. Furthermore, it allows future genetic counseling in the family. This case study highlights the importance of genetic testing in sporadic infant cases with CNDI that can occur due to de novo variants in AVPR2 or several generations of female transmission of the disease-causing variant

The Swedish Reflux Trial in Children: I. Study Design and Study Population Characteristics

Purpose: We compared the rates of febrile urinary tract infection, kidney damage and reflux resolution in children with vesicoureteral reflux treated in 3 ways, including antibiotic prophylaxis, endoscopic therapy and surveillance with antibiotics only for symptomatic urinary tract infection. Materials and Methods: Children 1 to younger than 2 years with grade reflux were recruited into this prospective, open, randomized, controlled, multi-center study and followed for 2 years after randomization. The main study end points were recurrent febrile urinary tract infection, renal status on dimercaptosuccinic acid scintigraphy and reflux status. Outcomes were analyzed by the intent to treat principle. Results: During a 6-year period 128 girls and 75 boys entered the study. In 96% of cases reflux was detected after urinary tract infection. The randomization procedure was successful and resulted in 3 groups matched for relevant factors. Recruitment was slower than anticipated but after patients were entered adherence to the protocol was good. Of the children 93% were followed for the intended 2 years without a treatment arm change. All except 2 patients completed 2-year followup scintigraphy. Conclusions: Recruitment was difficult but a substantial number of children were entered and randomly assigned to 3 groups with similar basic characteristics. Good adherence to the protocol made it possible to address the central study questions

Associated with Fecundity and a Sexual Ornament

Trait Loci (QTL) analysis (n=377) was performed using an F 2 intercross between a White Leghorn layer breed and a Red Junglefowl population, with onset of sexual maturity measured and mapped to three separate loci. This cross has already been analysed for comb mass, egg production and bone allocation. Onset of sexual maturity significantly correlated with comb mass, whilst the genetic architecture for sexual maturity and comb mass overlapped at all three loci. For two of these loci the QTL for sexual maturity and comb mass were statistically indistinguishable from pleiotropy, suggesting that the alleles that increase comb mass also decrease onset of sexual maturity.

Personality characteristics in a Swedish national sample of identifiable oocyte donors Personality characteristics in a Swedish national sample of identifiable oocyte donors

With regard to personality, a significant difference was evident between the two groups; oocyte donors showed lower means for Harm Avoidance and higher scores for Persistence than the controls. This indicates that the donors felt less worried and displayed a lower level of fear of uncertainty, shyness and fatigability and a higher level of persistence than the controls. In the present sample, 29 (16%) of the donors were so called "known donors" i.e. the recipient couples and the donors were known to each other. "Known donors" displayed a mature and stable character. Conclusion: In this nationwide oocyte donor program we found that the women who had been accepted for inclusion in the donation program were all well adjusted and mature

Disparities in treatment and outcome of kidney replacement therapy in children with comorbidities : an ESPN/ERA Registry study

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