Renal Glukozüri Tanısı Alan Bir Olgu

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.

Anahtar Kelimeler:

Glukozüri, SGLT2, SLC5A2

A CASE DIAGNOSED AS RENAL GLUCOSURIA

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,

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