N-acetyltransferase polymorphism in patients with Behcet's disease

Objectives: The objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behcet's disease.Methods: Eighty-five patients with Behcet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques. In addition, each patient received 100 mg dapsone orally to determine their NAT2 phenotype. Dapsone and its metabolite monoacetyl-dapsone were measured in 3-h plasma samples using high-performance liquid chromatography. Subjects with an acetylation ratio (monoacetyl-dapsone/dapsone) less than 0.4 were defined as slow acetylators.Results: Of 85 patients with Behcet's disease, 54 (63.5%) were identified as genotypically slow acetylators. However, 60% (51 of 85) of patients were diagnosed as slow acetylators according to mono acetyl-dapsone/dapsone ratio. Thus, a low incidence of genotype/phenotype discrepancy (3.5%) was observed in Turkish patients with Behcet's disease. When we compared our results with previous phenotyping and genotyping studies in the Turkish population, frequencies of slow and rapid acetylators were not statistically different in patients with Behcet's disease. The frequency of the *5B allele was found to be slightly higher in patients with Behcet's disease than historic controls (44.7 vs 35.6%, P=0.039). However, there was no significant difference in the frequency of the overall genotypes and alleles of NAT2 between patients and controls.Conclusion: Although the frequency of the NAT2*5B allele, responsible for slow acetylation, was slightly higher in patients than historic controls, our results failed to show an association between NAT2-acetylator status and risk for developing Behget's disease

N-acetyltransferase polymorphism in patients with Behcet's disease

Objectives: The objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behcet's disease

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

\ua9 2023 Oxford University Press. All rights reserved.Background. Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods. Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results. Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (61.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage =2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients =25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. Conclusion. This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems

Treatment and long-term outcome in primary distal renal tubular acidosis

Background Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.Methods We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form.Results Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage 2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate.Conclusion Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. 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Singhal, Jyoti] King Edward Mem Hosp, Pune, Maharashtra, India.[Soliman, Neveen A.] Cairo Univ, Dept Pediat, Ctr Pediat Nephrol & Transplantat, Kasr Al Ainy Sch Med, Cairo, Egypt.[Ariceta, Gema] Hosp Univ Vall dHebron, Barcelona, Spain.[Basu, Biswanath] NRS Med Coll, Div Pediat Nephrol, Kolkata, India.[Murer, Luisa] Azienda Osped & Univ Padova, Pediat Nephrol Dialysis & Transplant Unit, Padua, Italy.[Tasic, Velibor] Univ Childrens Hosp, Med Sch, Skopje, Macedonia.[Tsygin, Alexey] Natl Med & Res Ctr Childrens Hlth, Moscow, Russia.[Decramer, Stephane] CHU Toulouse, Serv Nephrol Pediat, Hop Enfants, Ctr Reference Malad Renales Rares Sud Ouest, Toulouse, France.[Gil-Pena, Helena] Hosp Univ Cent Asturias, Oviedo, Spain.[Koster-Kamphuis, Linda] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands.[La Scola, Claudio] Azienda Osped Univ St Orsola Malpighi, Nephrol & Dialysis Unit, Dept Woman Child & Urol Dis, Bologna, Italy.[Gellermann, Jutta; Thumfart, Julia] Charite Univ Med Berlin, Berlin, Germany.[Konrad, Martin; 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