• Journal of Veterinary Clinics
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• v.22 no.4
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• pp.420-423
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• 2005

A 2-year-old 16-kg, intact female lindo was presented with weight loss and poor hair coat. Abnormal serum biochemical values included mild hypokalemia (3.9 mmol/L, reference range 4.37 to 5.35 mmol/L) and mild hyperglycemia (124 mg/dl, reference range 65 to 118 mg/dl). in the complete blood count and diagnostic imaging examination, abnormal changes wer not seen. The analysis of urine sample obtained from cystocentesis revealed glucosuria (> 100 mg/dl) and mild proteinuria. Repeated analysis after admission showed persistent glucosuria and hypokalemia. But blood glucose values did not exceed the renal threshold fur glucose reabsorption. To differentiate cause of the glucosuria, the glucose tolerance test and the low-dosage dexamethasone suppression test were indicated. Results of both tests were normal. In addition, the serum total thyroxine $(T_4)$ value was within normal range. The arterial blood gas analysis showed no remarkable changes. The fractional reabsorption rates of amino acids and phosphorus were calculated above $97\%$. Based on these findings, the dog was diagnosed as renal glucosuria due to proximal renal tubular dysfunction. But this persistent renal glucosuria with hypokalemia may be the initial sign of Fanconi's syndrome or proximal renal tubular acidosis.

• Childhood Kidney Diseases
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• v.22 no.2
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• pp.37-41
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• 2018

Purpose: Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional SLC5A2 mutations and examine their phenotypic and genetic characteristics in a Korean FRG cohort. We also reviewed the literature and summarized the genotypes of all Korean patients with FRG. Methods: A genetic analysis was conducted by directly sequencing all 14 exons of the SLC5A2 gene and their flanking regions in six unrelated Korean children with FRG and their family members. Novel non-synonymous single-nucleotide polymorphisms were identified and compared with known mutations that are repeatedly detected in the Korean population. Results: We found two novel mutations [c.274G>A (G92S) and c.1168C>T (L390F)] and one known [c.1382G>A (S461N)] mutation in each family and one recurrent mutation [c.1346G>A (G449D) (rs768392222)] in two pedigrees. The recurrent G449D was predicted to be "possibly damaging," with a score of 0.883 in Polyphen-2, while G92S, L390F, and S461N were predicted to be "probably damaging," with scores of 1.000, 0.999, and 0.996, respectively. Conclusions: Two novel, one previously reported, and one recurrent mutation were identified in six Korean FRG pedigrees as causative mutations of renal glucosuria. Sequence variations in the SLC5A2 gene were frequently detected in children with persistent isolated glucosuria. A long-term follow-up of this FRG cohort is needed to understand how these specific SGLT2 mutations impair kidney function and energy homeostasis.

• Electrolytes & blood pressure
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• v.16 no.2
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• pp.19-22
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• 2018

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, $53mL/min/1.73m^2$). 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.

• Journal of Veterinary Clinics
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• v.30 no.4
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• pp.292-295
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• 2013

A 9-year-old, male, Doberman pinscher dog with 5-month history of intermittent hematuria, vomiting and glucosuria was referred to local animal hospital. Abdominal ultrasonography showed an irregular and hyperechoic mass in the renal medulla of the enlarged left kidney. Grossly atrophied renal cortex and medulla and marked hydronephrosis were observed on the cut surface of kidney. A single, numerous papillary projected, pedunculated mass 4~5.5 cm in diameter was occupied in renal pelvis, and extended from pelvis to the inlet of ureter. Histopathologically, the mass had numerous papillary structures with arboriform pattern. These papillae were consisted of fibro-vascular stalks that were lined by multiple layers of neoplastic urothelium (transitional epithelium) with marked cellular atypia. Immnohistochemical (IHC) staining demonstrated that the neoplastic cells showed strong positive reactions for cytokeratin (CK) 7, CK 19, CK clone MNF116 and CK high molecular weight, but negative signals for CK 8 low molecular weight. Based on the gross findings, histopathology and CKs profile using IHC staining, this mass was diagnosed as renal pelvis transitional cell carcinoma in a dog.