Renal Glukozüri Tanısı Alan Bir Olgu

Abstract

Renal glukozüri normal kan glukoz konsantrasyonu varlığında, genel renal tübüler disfonksiyon bulgusu olmadan üriner glukoz atılımı olarak tanımlanmaktadır. Proksimal tübülde glukoz reabsorbsiyonunda sekonder aktif transportu sağlayan taşıyıcı proteinlerden SGLT2’yi kodlayan SLC5A2 genindeki mutasyon sonucu gelişmektedir. Saptanan glukozüri nedeniyle değerlendirilen 10 yaşında kız çocuğunun vital bulguları ve sistem muayeneleri normaldi. Hastada 21.2-32 g/gün glukozüri saptandı. Proteinüri saptanmadı. Tübüler fonksiyonları, kreatinin klirensi, serum üre, kreatinin, ürik asit, bikarbonat, elektrolit değerleri, açlık kan şekeri, HbA1c ve OGTT, idrar aminoasid kromatografisi normal saptandı. İdrar şeker kromatografisinde glukoz dışında şeker atılımı saptanmadı. Hastanın anne ve babasında açlık kan şekerleri normal iken, tam idrar tetkiklerinde; babada 100mg/dl glukoz atılımı saptandı. Büyüme gelişme geriliği, poliüri, polidipsi ve dehidratasyon bulgularının bulunmaması, glukozürinin tanısal değerlendirilmesi açısından yapılan tetkik sonuçları ile olgumuzda renal glukozüri tanısı konmuştur.

Keywords

• Glukozüri, SGLT2, SLC5A2

A CASE DIAGNOSED AS RENAL GLUCOSURIA

Abstract

Renal glucosuria is defined as urinary glucose excretion in the presence of a normal blood glucose concentration and absence of general renal tubular dysfunction. It is caused by the mutations in the SLC5A2 gene, which encodes for SGLT2, one of the transporter proteins that provides secondary active transport during glucose reabsorption in proximal tubule. A 10 years old female patient, who was evaluated for glucosuria, had normal vital signs and physical examination. It has been determined that she had 21.2-32 g/day glucosuria. No proteinuria was detected. Tubular functions, creatinine clearence, serum levels of creatinine, urea, uric acid, bicarbonate, electrolytes, fasting blood glucose, HbA1c and OGTT, urinary amino acid chromatography were normal. In urinary sugar chromatography, secretion of sugars other than glucose was not detected. While fasting blood glucose values of her parents were normal, her father’s urinary glucose level was 100 mg/dl. According to the examination results, the patient was diagnosed as “renal glucosuria” as there were no other possible causes such as a developmental delay, poliuria, polydipsia, or dehydration

Keywords

• Glucosuria, SGLT2, SLC5A2

References

1. Scholl-Bürgi S, Santer R, Ehrich JH. Long-term outcome of renal glucosuria type 0: the original patient and his natural history. Neph- rol Dial Transplant 2004;19:2394-6.
2. Calado J, Loeffler J, Sakallioglu O, Gok F, Lhotta K, Barata J,et al. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. Kidney Int 2006 ;69(5):852-5.
3. Magen D, Sprecher E, Zelikovic I, Skorecki K. A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-reces- sive renal glucosuria and aminoaciduria. Kidney Int 2005;67(1):34- 41.
4. Dönmez O, Köse H. Çocuklarda Renal glukozüri. Güncel Pediatri 2004;2(4):134-6.
5. Schwartz GJ, Brion LP, Spitzer A. The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am 1987;34(3):571- 90.
6. Van den Heuvel LP, Assink K, Willemsen M, Monnens L. Autosom- al recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). Hum Genet 2002;111(6):544-7.
7. Francis J, Zhang J, Farhi A, Carey H, Geller DS. A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. Nephrol Dial Transplant 2004;19(11):2893-5.
8. Calado J, Soto K, Clemente C, Correia P, Rueff J. Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Hum Genet 2004;114(3):314-6.

9. Calado J, Sznajer Y, Metzger D, Rita A, Hogan MC, Kattamis A,et al. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mu- tations and further evidence of volume depletion. Nephrol Dial Transplant 2008;23(12):3874-9.
10. Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M,et al. Molecular analysis of the SGLT2 gene in patients with renal glukosuria. J Am Soc Nephrol 2003;14(11):2873-82.
11. Wu CJ. Transient renal glycosuria in a patient with acute pyelone- phritis. Intern Med 2001;40(6):519-21.