Transient renal glycosuria in a patient with acute pyelonephritis. (1/19)

Glycosuria was detected in a 37-year-old Chinese woman by a urinary examination in a local clinic with clinical evidence of acute pyelonephritis (APN). Transient glycosuria is an unusual complication of acute pyelonephritis in non-diabetic patients. As there is growing prevalence of type 2 diabetes in the population worldwide, it must be recognized that mistaken diagnosis of diabetes mellitus by glycosuria may predispose patients to an unfavorable hypoglycemic episode. Thus definite diagnosis of diabetes mellitus should be made only after recovery of APN by means of urinalysis or by simultaneous blood glucose concentration analysis.  (+info)

Molecular analysis of the SGLT2 gene in patients with renal glucosuria. (2/19)

The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice mutation was found in 5 families of different ethnic backgrounds, and a 12-bp deletion was found in two German families. Fourteen individuals (including the original patient with 'renal glucosuria type 0') were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.6 to 202 g/1.73 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m(2)/d (24 mmol/1.73 m(2)/d). Likewise, in index cases with glucosuria below 10 g/1.73 m(2)/d (55 mmol/1.73 m(2)/d) an SGLT2 mutation, if present, was always detected in the heterozygous state. We conclude that SGLT2 plays an important role in renal tubular glucose reabsorption. Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance.  (+info)

Is questionnaire information valid in the study of a chronic disease such as diabetes? The Nord-Trondelag diabetes study. (3/19)

STUDY OBJECTIVE: The aim was to validate information about diabetes mellitus collected by questionnaire in a large epidemiological survey. DESIGN: Questions on diabetes diagnosis, medical treatment for diabetes, diabetes duration, and hypertension treatment were selected from the Nord-Trondelag health survey questionnaires. One of the municipalities was selected for the validation study. SETTING: The health survey 1984-86 addressed all inhabitants > or = 20 years of age in Nord-Trondelag county, Norway; 76,885 (90.3%) of the eligible population participated in answering the question on diabetes. PARTICIPANTS: All inhabitants in the municipality answering "yes" to the question on diabetes (n = 169) and the persons with the same sex born closest before and after each diabetic patient and answering "no" to the diabetes question (n = 338) were included. MEASUREMENTS AND MAIN RESULTS: A very thorough search was made in the medical files of the general practitioners in the municipality for corresponding information. Compared to the files, diabetes was verified in 163 out of the 169. The commonest cause of discrepancy was renal glycosuria. One out of the 338 registered non-diabetic persons was found to have diabetes. Diabetic patients tended to overestimate diabetes duration significantly. Insulin treatment was verified in 19/20 (95%) and treatment with oral hypoglycaemic agents in all 44 with an affirmative questionnaire answer. A negative answer on insulin and oral hypoglycaemic agents was verified in 100% and 99% respectively. CONCLUSIONS: The concordance was considerably higher than in a comparable Norwegian study performed 10 years earlier. Patient administered questionnaires may be a very reliable source of information for epidemiological purposes in a well defined chronic disease such as diabetes mellitus.  (+info)

Massive immune hemolysis caused by anti-D after dual kidney transplantation. (4/19)

Massive immune hemolysis due to passenger lymphocyte-derived anti-D has not been reported in renal transplantation. A 50-year-old (B-positive) male received a dual deceased-donor kidney transplant (B-negative) for diabetic renal failure. Two weeks post-transplant, the patient developed severe hemolytic anemia. The donor anti-D titer was 1:8. The recipient anti-D titer (zero pre-transplant) increased from 1:4 to 1:16 over 4 days. Rapid hemolysis caused severe anemia, minimum Hb = 4.2 g/dL, while selectively lysing the patient's autologous red cells during this time. The hemolytic anemia did not impair the allografts and subsided without monoclonal B-cell pharmacotherapy or apheresis. The anti-D titer decreased to barely detectable levels at four months and had cleared when checked 2 years post-transplant. Transfusion support subsided after two months. If complications of anemia can be avoided, the deleterious effects of hemolysis may be well tolerated by renal allografts using antigen negative transfusion alone.  (+info)

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. (5/19)

 (+info)

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. (6/19)

 (+info)

Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model? (7/19)

 (+info)

Heterogeneous stock rats: a new model to study the genetics of renal phenotypes. (8/19)

 (+info)