Familial renal glycosuria (FRG) is an inherited disorder characterized by persistent glycosuria in the absence of hyperglycemia. It is caused by mutations in the sodium-glucose co-transporter, leading to increase in the renal excretion of glucose and sodium. However, there have been no studies on the role of fasting and postprandial changes in the urinary sodium excretion in patients with FRG. We report a case of renal glycosuria, which was confirmed by a SLC5A2 mutation via gene sequencing, and compared the postprandial urinary glucose and sodium excretion. A 26-year-old man sometimes experienced glycosuria on routine screening; however, other laboratory findings were normal. His fasting and postprandial urinary glucose excretion levels were 295mg/dL and 2,170mg/dL, respectively. The fasting and postprandial urinary sodium excretion levels were 200mEq/L and 89mEq/L, respectively. In patients with FRG, excessive diuresis might be prevented by a compensatory mechanism that reduces postprandial sodium excretion.
Adult ; Diuresis ; Fasting ; Glucose ; Glycosuria* ; Glycosuria, Renal ; Humans ; Hyperglycemia ; Mass Screening ; Renal Elimination ; Sodium ; Sodium-Glucose Transport Proteins

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease that comprises 4.7% of acute interstitial nephritis. With reno-ocular manifestations, TINU syndrome is accompanied by symptoms such as fever, fatigue, malaise, anorexia, vomiting, and arthralgia. TINU syndrome is reported mainly in children or adolescent girls, and it is rare in adults. Although TINU syndrome can present with multiple renal tubular defects, Fanconi syndrome characterized by generalized impairment of proximal tubular function, leading to renal glucosuria, hyperuricosuria, hyperphosphaturia, proximal renal tubular acidosis, and kaliuresis leading to hypokalemia, has rarely been described. We report a case of TINU syndrome with Fanconi syndrome in a 46-year-old HLA B27-positive Korean woman.
Acidosis, Renal Tubular ; Adolescent ; Adult ; Anorexia ; Arthralgia ; Child ; Fanconi Syndrome* ; Fatigue ; Female ; Fever ; Glycosuria, Renal ; Humans ; Hypokalemia ; Hypophosphatemia, Familial ; Middle Aged ; Nephritis, Interstitial* ; Rare Diseases ; Uveitis* ; Vomiting

A 56-year- old man showed millet seed to egg sized, yellowish tender papules, subcutaneous mass on the both elbows, dorsa of both hands & feet, and lateral malleoli and helix of right ear for 6 years. the significant laboratory findings were leukocytosis, increased erythrocyte sedimentation rate, glycosuria, hyperuricemia and increased blood glucose level. X-ray findings of both hands & feet demonstrated gouty arthritic patterns. Histopathologic findings of the left lateral malleolar lesion revealed the typical patterns. Histopathologic findings of the left lateral malleolar lesion revealed the typical pattern of gout with needle-shaped urate crystal. Therapy was begun with colchicine & allopurinol but the patient died of renal failure three weeks after the start of therapy.
Allopurinol ; Blood Glucose ; Blood Sedimentation ; Colchicine ; Ear ; Elbow ; Foot ; Glycosuria ; Gout* ; Hand ; Humans ; Hyperuricemia ; Leukocytosis ; Ovum ; Panicum ; Renal Insufficiency ; Uric Acid

Fanconi syndrome is a complex of renal tubular dysfunction defined by glycosuria without diabetes, generalized aminoaciduria, phosphaturia, bicarbonaturia, uric aciduria, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, rickets and osteomalacia. We have experienced one case of Fanconi syndrome with chronic tubulointerstitial nephritis. The patient was a 4 year old and his chief complaints were polyuria, polydipsia, and poor weight gain. There were hyperchloremic metabolic acidosis, hypokalemia, glycosuria, generalized aminoaciduria and phosphaturia. We report a case of Fanconi syndrome with brief review of the literatures.
Acidosis ; Acidosis, Renal Tubular ; Child, Preschool ; Fanconi Syndrome* ; Glycosuria ; Humans ; Hypokalemia ; Hypophosphatemia ; Hypophosphatemia, Familial ; Nephritis, Interstitial ; Osteomalacia ; Polydipsia ; Polyuria ; Rickets ; Weight Gain

BACKGROUND: Tenofovir disoproxil fumarate (TDF) is relatively safe, although renal toxicity has been reported. In Nigeria, there is insufficient data on renal toxicity among patients on TDF. This study assesses TDF-associated tubular dysfunction among human immunodeficiency virus (HIV) patients at a hospital in Nigeria. METHODS: In this cohort study, 104 adult HIV patients were recruited with a simple random technique from the outpatient clinic. Biochemical indices of renal function were estimated from serum and urine at the 16th and 24th week after an initial assessment at baseline. RESULTS: There were no significant differences in baseline proteinuria or glycosuria between TDF and non-TDF groups. Mean baseline urine and serum parameters did not differ significantly between the two groups (P > 0.05). In the TDF group, all urine parameters differed significantly between baseline and 24th week values (P < 0.001). After 16 weeks, mean urine phosphate and urine uric acid increased significantly (P < 0.05) by 2.97 mg/dL and 50.9 mg/dL, respectively, in the TDF group. The rise in mean urine glucose from baseline to the 24th week was more marked in the TDF than the non-TDF group (0.25 vs. 0.07 mmol/L). Higher mean differences in urine albumin were also recorded in the TDF group from baseline to the 24th week. CONCLUSION: Indicators of tubular dysfunction were markedly higher among patients on the TDF-based treatment regimen. Biomarkers of tubular dysfunction could be useful for detecting pre-symptomatic nephrotoxicity before marked reduction of glomerular filtration rate in HIV patients on TDF.
Adult ; Ambulatory Care Facilities ; Biomarkers ; Cohort Studies ; Fanconi Syndrome ; Glomerular Filtration Rate ; Glucose ; Glycosuria ; HIV* ; Humans* ; Nigeria* ; Proteinuria ; Renal Insufficiency, Chronic ; Tenofovir ; Uric Acid

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, 53 mL/min/1.73 m²). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.
Acidosis, Renal Tubular ; Adult ; Biopsy ; Blood Urea Nitrogen ; Bone Density ; Creatinine ; Drug-Related Side Effects and Adverse Reactions ; Fanconi Syndrome ; Female ; Glomerular Filtration Rate ; Glycosuria, Renal ; Humans ; Hypophosphatemia, Familial ; Middle Aged ; Molecular Biology ; Osteoporosis ; Parathyroid Hormone ; Pathology ; Proteinuria ; Vitamin D

The Fanconi's syndrome is characterized by generalized disturbance of proximal tubular function. It leads to excessive losses of amino acids, glucose, phosphate, bicarbonate, and other substrates handled by the proximal tubules. The metabolic consequences are acidosis, hypophosphatemia, hypocalcemia, osteomalacia, osteoporosis, and growth retardation. Adult Fanconi's syndrome is mostly secondary form caused by multiple myeloma, primary amyloidosis, light chain nephropathy, and heavy metal poisoning. We experienced 50-year-old woman with kappa light chain disease whose chief complaints were weakness of both lower extremities and multiple bone pain. This patient had renal glycosuria, hypercalciuria, normal anion gap type metabolic acidosis, osteomalacia and normal distal tubule acidification. Her bone marrow biopsy showed inappropriate proliferation of plasma cell. The patient underwent percutaneous renal biopsy in which was exceptionally observed focal effacement of podocyte foot process. So we report a case of osteomalacia caused by adult Fanconi's syndrome and foot process effacement by kappa -light chain disease.
Acid-Base Equilibrium ; Acidosis ; Adult* ; Amino Acids ; Amyloidosis ; Biopsy ; Bone Marrow ; Female ; Foot* ; Glucose ; Glycosuria, Renal ; Humans ; Hypercalciuria ; Hypocalcemia ; Hypophosphatemia ; Lower Extremity ; Middle Aged ; Multiple Myeloma ; Osteomalacia* ; Osteoporosis ; Plasma Cells ; Podocytes* ; Poisoning

An epidemiological survey on the glycosuria was conducted on the senier students of middle and high school in Seoul, from March 1981 to March 1982. Selected examinee totalled to 254,835 of which 138,116 were male & 116,719 were female. The initial, second and third urine sugar test were done with Combur-test strip(r). Glucose tolerance test was performed on those who were found to have persistent glycosuria. The followings showed the results of the survey. Among the 254,835 examinees, 1,240 were found with initial positive glycosuria. The glycosuria positive rate revealed 0.52% for male, 0.44% for female. Its average was 0.49%. It also revealed that male students in high school had higher positive rate of glycosuria. 2) The persistent glycosuria positive rate revealed 11.58/100,000 for male, 15.42/100,000 for female and its average was 13.34/100,000. 3) Out of the 33 cases with the persistent glycosuria, 60.6% of them were diagnosed as diabetes mellitus. 4) The overall prevalence rate of diabetes was 7.85/100,000. The prevalence rate of male was5.79/100,000, and female was 10.28/100,000. Consequently the rate of male to female was 1:1.78, showing that rates were higher for females than males. The. survey also revealed that the prevalence rate of diabetes was increased with advancing grade. 5) The 70% of the total person who were diagnosed as diabetes, did not recognize of their disease by themselves till the survey was conducted. 6) The frequency of subjective diabetic symptoms were polydipsia, polyuria and polyphagia in order. *Combur-test(r)are registered trade marks of the Boehringer mannheim GmbH Company.
Child* ; Diabetes Mellitus* ; Female ; Glucose Tolerance Test ; Glycosuria* ; Humans ; Male ; Polydipsia ; Polyuria ; Prevalence* ; Seoul

BACKGROUND: Urine ketone test is commonly used to screen for diabetic ketoacidosis (DKA). Ketonuria also develops in patients with disease conditions other than DKA. However, the prevalence of DKA in patients with ketonuria is not known. We investigated the prevalence of ketonuria and characteristics of patients with ketonuria and estimated the prevalence of DKA among them to study the clinical significance of ketonuria as an indicator of DKA. METHODS: We studied 1,314 adult and 1,027 pediatric patients who underwent urinalysis. The prevalence of ketonuria in the different groups of patients, classified according to the types of their visits to the institution, was investigated, and the relationships between ketonuria and albuminuria, glycosuria, and bilirubinuria were evaluated. RESULTS: The overall prevalence of ketonuria was 9.1%. The prevalences of ketonuria in adult and pediatric patients were 4.3% and 15.2%, respectively. The prevalences of ketonuria were the highest in the adult (9.7%) and pediatric (28%) patients in the group that had visited the emergency department. Among patients with ketonuria, 7% adult and 3.8% pediatric patients showed glycosuria. CONCLUSIONS: This study showed that the prevalence of DKA in patients with ketonuria, defined as the simultaneous presence of ketone bodies and glucose in urine, was only 7%. Therefore, we concluded that ketonuria might be clinically significant as an indicator of acute or severe disease status rather than of DKA.
Adult ; Albuminuria ; Diabetic Ketoacidosis ; Emergencies ; Glucose ; Glycosuria ; Humans ; Ketone Bodies ; Ketosis ; Prevalence ; Urinalysis

Adult Fanconi syndrome is a very rare disease characterized by renal glycosuria, generalized aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. It is divided into inherited and acquired forms. Proximal tubular transport defect in acquired Fanconi syndrome has been known to be resulted from multiple myeloma, dysproteinemias, heavy metal poisoning and chemical intoxications. A 50 year-old woman was admitted because of nausea for 2 weeks and body weight loss for 4 months. Leukocyte count, hemoglobin level and platelet count were 7,870/mm3, 11.7 g/dL 404,000/mm3 each. The urinalysis showed pH of 7.0, 3 positive for glucose and 3 positive for protein. The serum calcium, phosphate, uric acid and potassium were low to 8.9 mg/dL, 1.0 mg/dL, and 1.7 mEq/L. Serum creatinine level was 1.3mg/dL. The arterial blood gas analysis showed that the pH was 7.292 and bicarbonate was 14.7 mmol/L. Determination of amino acids in 24 hour urine specimen revealed the generalized aminoaciduria. Renal biopsy showed degeneration and necrosis of proximal tubules with normal glomeruli. Some tubular epithelial cells had enlarged nuclei and prominant nucleoli with vacuolated large mitochondrias. Cadmium concentrations of blood and urine were definitely higher than normal. The concentration of beta 2-microglobulin in urine was also high. Bicarbonate loading tests showed increased fractional excretions of bicarbonate in urine (6.129% at blood pH 7.248 and plasma HCO3 18.8 mEq/L, 13.7% at blood pH 7.315 and plasma HCO3 21.8 mEq/L). 24 hour urine protein electrophoresis showed no monoclonal gammopathy. This case of adult Fanconi syndrome was regarded to be related with cadmium intoxication. But no case of adult Fanconi syndrome related with cadmium toxicity has been reported yet in Korea. So authors report this case with brief review of literatures.
Acidosis, Renal Tubular ; Adult* ; Amino Acids ; beta 2-Microglobulin ; Biopsy ; Blood Gas Analysis ; Body Weight ; Cadmium* ; Calcium ; Creatinine ; Electrophoresis ; Epithelial Cells ; Fanconi Syndrome* ; Female ; Glucose ; Glycosuria, Renal ; Humans ; Hydrogen-Ion Concentration ; Hypophosphatemia ; Korea* ; Leukocyte Count ; Middle Aged ; Mitochondria ; Multiple Myeloma ; Nausea ; Necrosis ; Paraproteinemias ; Plasma ; Platelet Count ; Poisoning ; Potassium ; Rare Diseases ; Seoul* ; Uric Acid ; Urinalysis