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 (±1.0), 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.

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Metastatic endophthalmitis in a ten-day-old baby who underwent colostomy for an unperforated anus and developed septicemia to Serratia marcescens is described. Although rapid isolation of the agent enabled efficacious specific antibiotic treatment and systemic eradication of the infective agent, the ocular condition continued to deteriorate. Because of the total loss of visual functions and the fear of possible development of sympathetic ophthalmia, enucleation rather than vitrectomy or evisceration was performed. Histopathologic examination of the globe revealed massive infiltrates within the choroid and optic nerve with total destruction of the retinal architecture. The child recovered immediately after surgery and was discharged a week later.