1- Department Of Pediatrics, Tata Motors Hospital, Jamshedpur.
Vivek Sharma, Email: vivek@tatamotors.com
We present a 3 year old male child otherwise healthy
and developmentally normal incidentally found to have 3+ urine glucose on
dipstick. His blood sugar & HbA1C was normal. There was no other evidence
of any tubulopathy. Hence the possibility of Non-diabetic Renal Glycosuria was
kept, which is a benign & self-limiting condition.
CASE PRESENTATION
A 3 year old male child born to a
non-consanguineous parents came to our O.P.D with complaint of fever. Routine
blood & urine investigations were sent. Child was otherwise healthy with
normal developmental milestones. His weight and height were plotted on growth
charts & found to be with in normal limits. Clinical examination was also
normal. To our surprise his urine sugar came 3+, rest all investigations were
normal. Child was treated symptomatically for viral fever & when the fever
subsided urine routine examination was repeated, which again showed 3+ sugar by
dipstick while all other parameters like leucocytes, nitrates, urobilinogen,
blood, protein & even ketones was negative. So his fasting sugar &
HbA1C was done which came as 85mg/dl & 4.6% respectively which were normal.
Additional investigations were then performed which includes blood urea,
creatinine, electrolytes and uric acid. All of which were with in normal
limits.
Since the child was asymptomatic now, so he was
kept in follow up. IN follow up after about a month. His blood sugar &
Hba1C was repeated along with urine routine examination. His blood sugar was
90mg/dl & Hba1C was 4.5% but, urine again showed 3+ sugar in it. Urine was
also analysed for phosphate, creatinine, & sodium also but, all were within
normal limits. Both the parents were also tested for glycosuria which was
absent on dipstick testing.
In view of glycosuria in the absence diabetes and without
any features of tubulopathies, the diagnosis of benign renal glycosuria was
made.
DISCUSSION
With normal renal tubular function, glucose will
only be excreted in urine when blood glucose concentrations are elevated, and
the renal tubular re-absorptive capacity for glucose is exceeded. Glucose
transport in human kidney and intestine is mediated by sodium-coupled glucose
transporters, termed SGLT, and glucose transporters, termed GULT. Glucose is transported across the brush
border in to the epithelial cell via SGLT, and across the baso-lateral aspect
out of epithelial cell by GLUT. The
intestine and kidney share high-affinity Na+/glucose co-transporters (SGLT1),
but a low affinity Na+/glucose co-transporter (SGLT2) is kidney specific. In the normal nephron, filtered glucose is
reabsorbed in the proximal convoluted tubule (PCT), about 90% being reabsorbed
in the first segment of PCT by high-affinity SGLT1, and the remainder in the
second and third segments of the PCT by low-affinity SGLT21.
Renal glycosuria (also known as benign glycosuria
or non- diabetic glycosuria) is a benign, inherited condition in which glucose
is excreted in urine despite normal blood glucose concentrations. The condition
is asymptomatic and self-limiting, and is usually only discovered incidentally.
However, glycosuria may be associated with other tubulopathies, such as Fanconi`s
syndrome, Cystinosis, Wilson`sdisease , hereditary tyrosinaemia and
oculocerebrorenal syndrome ( Lowe`s syndrome ).
These other tubulopathies, however, are associated with growth failure,
muscle dystonia, polyuria, polydipsia, dehydration or ocular defects (glaucoma,
cataracts). In renal glycosuria no other renal tubular dysfunction is present5
.
Benign glycosuria can be of two types:
Type A:
Classic glycosuria caused by a reduced tubular threshold and maximal
reabsorptive rate for glucose .
Type B:
Normal maximal reabsorpitive rate for glucose, but reduced tubular
threshold.
Plasma glucose, glucose tolerance, insulin and
HbA1c are all normal, and all other renal tubular abnormalities are absent in
both types5.
The molecular mechanism giving rise to benign renal
glycosuria has been discovered to be due to a defect in the low-affinity SGLT2
in the proximal convoluted portion of renal tubules3,4. Inheritance is autosomal recessive, but
because the condition is asymptomatic, a family history is often
non-contributory.
Suggested investigations for suspected cases of
renal glycosuria include blood tests for urea, creatinine and electrolytes,
calcium, phosphate, uric acid, glucose, and measurement of the HbA1c. Urine
should be sent for urinalysis and microscopy, and measurement of phosphate, and
the tubular maximum of phosphate reabsorption should be calculated. In cases where another tubulopathy is
suspected on the basis of abnormal laboratory results or clinical findings, a
24-hour urine specimen should be collected and sent for amino acid
analysis. Refferal to a pediatric
nephrologist is then recommended5.
Renal glycosuria requires no treatment or special
dietary restrictions, and the prognosis is excellent. Once diabetes mellitus
and other renal tubular disorders are excluded, all that remains is to explain
the condition, and reassure the parents5.
CONCLUSION
The case illustrates an unusual cause of
glycosuria, the commonest cause of which is uncontrolled diabetes mellitus. In
young non-obese children type 1 diabetes mellitus is the commonest type of
diabetes, where the absence of insulin production and secretion from the beta
cells in pancreatic islets causes hyperglycemia and ketosis. Renal glycosuria
is a benign autosomal recessive condition caused by a defect in SGLT2 in the
PCT of the nephron, which allows renal glycosuria to occur in the absence of a
raised serum glucose level. Benign renal glycosuria is not associated with
other renal tubular abnormalities. The condition is benign, and asymptomatic,
and no treatment or diteary restriction is necessary.
REFERENCES