1.Case PresentationA case of recurrent vomitingDr Nilam Thaker Pediatric NephrologistAhmedabad

2. Male/15 monthsC/O failure to thrive vomiting off and on 6-7 month of age abdominal distensionNo h/o diarrhoea/constipation fever/cough/cold/breathlessnessjaundice 3. H/O Polyuria & polydipsiaNo H/O dysuria or straining while passing urine bony deformity visual or hearing problem convulsion/change in sensorium 4. Born full term Birth weight 2.5 kg No perinatal problem Apparently normal till 4-6 month of age 5. 6 9 months Vomiting started at 5-6 month of age, not relieved bytreatment Investigated for vomiting and abdominal distension at Bhopal Had hepatomegaly with abnormal liver enzymes Referred to higher center to rule out liver disorder 6. S/H: only sib F/H: Grand father(paternal) expired due to renal failuresecondary to diabetes Grand father(maternal)- diabetic with renal stone mothers both uncle diabetic with renal failure, on dialysis Milestones: mild delay of motor milestones 7. G/E :Weight 7.6 kg, Height 73cm(expected 10.5kg/78 cm)Vitals stablePallor presentS/E : Hepatomegaly 7 cm bcm, firm, nontender rest unremarkable 8. Clinical impression:Failure to thrive with anemia with hepatomegaly to rule out- liver disorder- renal tubular dysfunction 9. Investigations at 9 months( July 2010)Hb 8.3Bilirubin(T/D/I) 0.3/0.1/0.2OT/PT 131/132, GGT 126, Alkaline phophatase 237Albumin/globulin 4.7/1.9PT/APTT normalBlood sugar( after 12 hrs fasting) 61Triglycerides 219,CPK 51 25 OH vitamin D level 15.4ng/mlLiver Bx: marked micro- macro vesicular steatosis of most of hepatocytes 10. Provisional diagnosis was kept as GSD type IIITreatment given Calcirol sachet Rocaltrol Vitamin K 5 mg every monthly Multivitamins Diet- corn starch 11. After 7-8 months of above Rx, his symptoms were persistent in form of persistent vomiting and failure to thriveRequired 3 times hospitalization ( between 8-15 month)- Electrolyte imbalance in form of hypokalemia, hyperchloremia- Acidosis- Deranged liver enzymes- USG : diffuse enlargement of liver with fatty infiltration nephrocalcinosis ?? Renal tubular disorder 12. Investigated at 15 month of age ( 3/2/11)SGOT 508, SGPT 901, GGT 36Urine Ca/Creat ratio 1.32VBG: PH-7.25, PCO2 35.2, HCO3 15.3,Urine sugar nil, RBS 65Na 129, K 3.82, Cl 96AG : 17.7(high) Treatment given: Potassium citrate,Lactate 2.9mmol/l sodamint tab,Urea 22, Creatinine 0.35 DomstalCalcium, Phosphorous normal 13. After 3 weeks of treatment Urinary complaints( polyuria) decreased Vomiting off and on continued During episodes of vomiting, blood sugar alwaysremained > 60 Weight loss of 300gm (7.6 to 7.3 kg) 14. Case reviewed and history retaken Well till about 5-6 months No significant hypoglycemia No huge hepatomegaly Persistent vomiting FTT Abnormal LFTs Tubular dysfunction with hypercalciuriaAny clue??? 15. Detailed History takenVomiting particularly when given sweet food, fruitsTolerated salty food without any vomiting 16. Guess what??????? 17. Suspected Hereditary Fructose Intolerence 18. Kept on- fructose free diet Potassium citrate, sodamint Iron/ folic acidWith in 1 month weight gain of 1.4 kg no vomiting playful 19. After 4 months of fructose free diet Weight gain of 2.6 kg No vomiting, polyuria Anemic, Hb remained between 8-9 Acidosis improved, normal electrolytesInvestigated for anemia S.Iron, Transferrin saturation - normal S.Ferritin 12.1(low) Hb elecrophoresis: B thalessemia trait 20. Blood sent for genetic testing for confirmation of HFI DNA screened for mutations and large scale deletions/duplications in coding axons 2-9 of the ALDOB geneFluorescent sequencing analysiss/o Homozygous for c.324+1G>A ALDOB mutation 21. date weight height remarks3/2/11 7.673cm26/2/117.3 Kept on fructose free diet23/3/118.775.53/5/11 9.276.34/7/11 9.9807/9/11 10.121/10/11 10.3 82.21/12/1110.9 83.42/4/12 11.5 86.5 22. date PH HCO3 Lactate NaKCl3/2/11 7.25 15.3 2.9 129 3.82 96UriliserSoda bicarb12/2/117.34 10.9 526/2/117.33 18.9 2.6 137.6 4.49 103.4 Fructosefree diet4/4/11 7.39 21.8 145 5.08 1013/5/11 7.37 16.2 134 5.26 97Incresedsoda bicarb4/7/11 7.40 18.95/9/11 7.36 22.7 140.4 3.98 99.321/10/11 7.421.92/4/12 7.43 23 140.6 4.34 102.3 23. Urine Ca/Creat ratio: ( normal