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Glycosuria can be isolated or it can be associated with other tubulopathies like proximal renal tubular acidosis, Fanconi syndrome and endocrine conditions like diabetes mellitus. The SLC5A2 gene codes for the SGLT2 transporter, which is responsible for glucose reabsorption in the proximal tubule. Previously reported cases show that mutation in this gene is associated with intellectual disability, seizure disorder and renin and angiotensin system dysfunction. In his early childhood, a male child displayed persistently high urine glucose levels. We ruled out diabetes mellitus and other tubulopathies before diagnosing the child with familial renal glycosuria, with a novel mutation in the SLC5A2 gene, and screened family members for the same condition. Child's father was found to have isolated renal glycosuria and tested positive for mutation in the SLC5A2 gene., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Aims To explore Pakistani and Indian patients' experiences of, and views about, diabetes services in order to inform the development of culturally sensitive services. Design Qualitative, interview study involving 23 Pakistani and nine Indian patients with Type 2 diabetes recruited from general practices and the local community in Edinburgh, Scotland. Data collection and analysis occurred concurrently and recruitment continued until no new themes emerged from the interviews. Results Respondents expressed gratitude for the availability of free diabetes services in Britain, as they were used to having to pay to access health care on the Indian subcontinent. Most looked to services for the prompt detection and treatment of complications, rather than the provision of advice about managing their condition. As respondents attached importance to receiving physical examinations, they could be disappointed when these were not offered by health-care professionals. They disliked relying on interpreters and identified a need for bilingual professionals with whom they could discuss their diabetes care directly. Conclusions Gratitude for free services in Britain may instil a sense of indebtedness which makes it difficult for Pakistanis and Indians to be critical of their diabetes care. Health-care professionals may need to describe their roles carefully, and explain how different diabetes services fit together, to avoid Pakistani and Indian patients perceiving treatment as unsatisfactory. Whilst linkworker schemes may meet patients' need to receive culturally sensitive information in their first language, work is needed to assess their effectiveness and sustainability. [ABSTRACT FROM AUTHOR]

The fasting blood sugar level and glucose tolerance were investigated in seven amle lowlanders at sea level, during their stay at an altitude of 4,000 m at intervals of 2 weeks, 10, 15, 20, and 24 months and again on return to sea level during the first week and after 1 month. For comparison, the glucose tolerance of six male Ladakhis (natives of high altitude area) was also determined at altitude. The fasting blood sugar among lowlanders increased to 136.0 plus or minus 4.39 mg per 100 ml during 10 months of stay at altitude followed with a gradual decrease to a value of 76.4 plus or minus 3.8 at the end of 24 months. On return to sea level, the blood glucose showed a tendency to increase. Ladakhis had a lower blood sugar level at altitude (86.4 plus or minus 7.28) as compared with lowlanders at sea level (92.6 plus or minus 2.29). The glucose tolerance curves of lowlanders ran paralell to each other at altitude and at sea level. However, the peak of the glucose tolerance curve shifted towards the left during the 20th and 24th months of stay at altitude and at sea level. However, the peak of the glucose tolerance curve shifted towards the left during the 20th and 24th months of stay at altitude and on return to sea level. The tolerance curve of Ladakhis was similar to that of lowlanders at altitude, but showed a sharper blood sugar decline rate.