Fanconi bickel syndrome

Fanconi Bickel syndrome
Dept of nephrology
Dr.U.Sridhurga
II yr MD PG
Institute of Child Health and Hospital for Children
I yr old female child
1st born of 3rd degree consanguinous parents
Referred for
Polyuria , polydipsia – 6months
Motor developmental delay
Rickets treated with 3 doses of Vitamin D
Glycosuria – 6 months
Examination:
Awake , afebrile
Costochondral beading , wrist widening
Hydration à fair
CVS: S1S2 +
RS: BAE +
P/A : Hepatomegaly
CNS: clinically normal
Anthropometry :
HC-42 cm( < 5thcentile)
Length-65 cm (<5thcentile)
Weight-6.5 kg (<5thcentile)
Vitals: Stable
Blood investigations
Result
Blood glucose fasting
34 mg%
Post prandial
230 mg%
Urea
18.4 mg%
Creatinine
0.5 mg%
Sodium
142.5 mmol/L
Potassium
4 mmol/l
Chloride
113.2 mmol/l
Bicarbonate
15.8 meQ/l
Calcium
9.4 mg%
Phosphorus
4.3 mg%
SGOT/SGPT
113/68 IU
SAP
3524 IU
S.Uric acid
3.5 mg%
Albumin
3 mg%
Globulin
2.8 mg%
Urine Investigation
Result
Urine osmolality
168moOsm/kg
Early morning urine ph
5.5
Glucose
442 mg% / ++++
Ketone
Negative
Sodium
27 meQ/l
Chloride
17.5 meQ/l
Potassium
8.7 meQ/l
Bicarbonate
9 meQ/l
Phosphorus
5 mg%
Calcium
13.3 mg%
Creatinine
12 mg%
Urine spot protein/creatinine ratio=2.0
Urine spot calcium/ creatinine =5.6
FeHCO3= =19.31%
Tubular resorption of phosphorus=52.9%
Urine chromatography à generalised aminoaciduria traces
Serum parathormone à 4.5 mic/dl
Hb A1C 5.6%
C peptide 1.2 (0.9 – 4)
Xray of both knees and hand :Rickets
USG showed-Hepatomegaly
right kidney 8.8cm
left kidney 8.9cm
To summarise…
Normal anion gap hyperchloremic metabolic acidosis
Positive urine anion gap
Urine ammonium excretion 37.5mmol/L
With ability to acidify urine to a pH 5.5
Glycosuria
Phosphaturia
Aminoaciduria
Bicarbonaturia
s/o FANCONI’S SYNDROME
Differential diagnosis for fanconi’s syndrome presenting in
infancy:
Tyrosinemia
Cystinosis
Fanconi bickel syndrome
Hereditary fructose intolerance
Fanconi’s syndrome with
Hepatomegaly
Fasting hypoglycemia
Postprandial hyperglycemia
No fructose intolerance
s/o FANCONI BICKEL SYNDROME
Differential diagnosis:
Glycogen storage disorder type 1
Onset: neonatal period or infancy
Presentation:Hepatomegaly or hypoglycemic seizures with doll like
face
Renal involvement: 2nd decade , Distal RTA , FSGS , CRF
Hypoglycemia , lactic acidosis , hyperuricemia,
hypertriglyceridemia
DNA analysis
In exon 2 of SLC2A2,(GLUT 2 gene) a
T-to-G substitution (c.56T>G) was
found in a homozygous pattern
This substituion changes the leucine
codon at 19 to arginine (p.L19R)
Discussion
The Fanconi–Bickel syndrome is inherited in an autosomal
recessive mode.
Hepatorenal glycogen accumulation, due to mutation of
GLUT 2.
Also known as GSD type XI.
Incidence : Less than one in one million children
The first manifestations of this syndrome are first recognized
usually between 3 and 10 months of age.
These children present with clinical signs of rickets, short
stature (<3° percentile),polyuria and significant
hepatomegaly.
Fasting hypoglycemia postprandial hyperglycemia and
hypergalactosemia,
Proximal renal tubular dysfuction
Long-term follow-up studies show
Severe growth retardation, partly compensated for by late
onset of puberty.
Glomerular filtration rate is normal or slightly decreased.
Renal tubular dysfunction :impaired proximal tubular
transport mechanisms
The utilization of glucose and galactose is defective,
whereas fructose metabolism seems to be normal.
There is no effective treatment for Fanconi-Bickel
syndrome
Symptoms can be treated with adequate
supplementation of water, electrolytes, and
vitamin D, restriction of galactose, and a diabetes
mellitus-like diet (low sugar and low
carbohydrate) presented in frequent small meals.
Thank you