Case PresentationA case of recurrent vomiting          Dr Nilam Thaker           Pediatric Nephrologist                Ahm...
Male/15 monthsC/O failure to thrive vomiting off and on       6-7 month of age abdominal distensionNo h/o diarrhoea/con...
H/O Polyuria & polydipsiaNo H/O dysuria or straining while passing urine bony deformity visual or hearing problem con...
 Born full term Birth weight – 2.5 kg No perinatal problem Apparently normal till 4-6 month of age
6 – 9 months Vomiting started at 5-6 month of age, not relieved by  treatment Investigated for vomiting and abdominal di...
 S/H: only sib F/H: Grand father(paternal) expired due to renal failure  secondary to diabetes Grand father(maternal)-...
G/E :  Weight 7.6 kg, Height 73cm(expected 10.5kg/78 cm)  Vitals stable  Pallor presentS/E : Hepatomegaly 7 cm bcm, firm, ...
Clinical impression:“Failure to thrive with anemia with hepatomegaly “                           to rule out              ...
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 237Alb...
Provisional diagnosis was kept as GSD type IIITreatment given Calcirol sachet Rocaltrol Vitamin K 5 mg every monthly M...
After 7-8 months of above Rx, his symptoms were persistent in form of persistent vomiting and failure to thriveRequired 3 ...
Investigated at 15 month of age ( 3/2/11)SGOT 508, SGPT 901, GGT 36                              Urine Ca/Creat ratio 1.32...
After 3 weeks of treatment Urinary complaints( polyuria) decreased Vomiting off and on continued During episodes of vom...
Case reviewed and history retaken   Well till about 5-6 months   No significant hypoglycemia   No huge hepatomegaly   ...
Detailed History takenVomiting particularly when given sweet food, fruitsTolerated salty food without any vomiting
Guess what???????
Suspected“ Hereditary Fructose Intolerence”
Kept on- fructose free diet         Potassium citrate, sodamint         Iron/ folic acidWith in 1 month weight gain of 1.4...
After 4 months of fructose free diet Weight gain of 2.6 kg No vomiting, polyuria Anemic, Hb remained between 8-9 Acido...
Blood sent for genetic testing for confirmation of HFI   DNA screened for mutations and large scale   deletions/duplicatio...
date       weight   height   remarks3/2/11     7.6      73cm26/2/11    7.3               Kept on fructose                 ...
date       PH     HCO3   Lactate   Na      K      Cl3/2/11     7.25   15.3   2.9       129     3.82   96      Uriliser    ...
Urine Ca/Creat ratio: ( normal<0.2) date                  Urine Ca/creat ratio 22/1/11               1.75                 ...
date       Bilirubin        SGPT   SGOT   GGTP   Protein      SAP           (T/D/I)                               (alb/glo...
Present treatment:    Fructose free diet    Potassium citrate    Sodium bicarbonate    Iron    Multivitamin    Udiliv
Hereditary Fructose Intolerence Disorder of fructose metabolism Deficiency of Aldolase B Autosomal recessive Incidence...
Fructose metabolism               fructose                        fructokinase               fructose 1 phosphate         ...
FRUCTOSE METABOLISM           Hereditary fructose-           1,6-bisphosphatase           deficiency results in           ...
Aldolase B Three isoenzymes of aldolase- A,B,C Aldolase A – expressed in muscle Aldolase B- exclusively expressed in liver...
Lack of aldolase B Impaired gluconeogenesis and glycolysis Accumulation of fructose 1 posphate leads to     - decrease i...
Clinical features Neonate and infant exclusive on breast feeding- no symptoms After consumption of fructose containg foo...
Clinical features Long term effects:    Failure to thrive    liver : hepatomegaly, deranged liver function, cirrhosis    K...
Diagnosis fructose tolerance test  fructose is injected intravenously and glucose, fructose, and  phosphate levels in the...
Treatment Avoidance of fructose, sucrose and sorbitol containing  food Treatment of complications   - liver dysfunctions...
Prognosis Excellent for infants who receive rapid diagnosis and  treatment. In the absence of substantial hepatic damage...
A case of recurrent vomiting
A case of recurrent vomiting
Upcoming SlideShare
Loading in...5
×

A case of recurrent vomiting

1,178

Published on

0 Comments
0 Likes
Statistics
Notes
  • Be the first to comment

  • Be the first to like this

No Downloads
Views
Total Views
1,178
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
17
Comments
0
Likes
0
Embeds 0
No embeds

No notes for slide

A case of recurrent vomiting

  1. 1. Case PresentationA case of recurrent vomiting Dr Nilam Thaker Pediatric Nephrologist Ahmedabad
  2. 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/breathlessness jaundice
  3. 3. H/O Polyuria & polydipsiaNo H/O dysuria or straining while passing urine bony deformity visual or hearing problem convulsion/change in sensorium
  4. 4.  Born full term Birth weight – 2.5 kg No perinatal problem Apparently normal till 4-6 month of age
  5. 5. 6 – 9 months Vomiting started at 5-6 month of age, not relieved by treatment Investigated for vomiting and abdominal distension at Bhopal Had hepatomegaly with abnormal liver enzymes Referred to higher center to rule out liver disorder
  6. 6.  S/H: only sib F/H: Grand father(paternal) expired due to renal failure secondary to diabetes Grand father(maternal)- diabetic with renal stone mother’s both uncle diabetic with renal failure, on dialysis Milestones: mild delay of motor milestones
  7. 7. G/E : Weight 7.6 kg, Height 73cm(expected 10.5kg/78 cm) Vitals stable Pallor presentS/E : Hepatomegaly 7 cm bcm, firm, nontender rest unremarkable
  8. 8. Clinical impression:“Failure to thrive with anemia with hepatomegaly “ to rule out - liver disorder - renal tubular dysfunction
  9. 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 4.7/1.9 PT/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. 10. Provisional diagnosis was kept as GSD type IIITreatment given Calcirol sachet Rocaltrol Vitamin K 5 mg every monthly Multivitamins Diet- corn starch
  11. 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. 12. Investigated at 15 month of age ( 3/2/11)SGOT 508, SGPT 901, GGT 36 Urine 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. 13. After 3 weeks of treatment Urinary complaints( polyuria) decreased Vomiting off and on continued During episodes of vomiting, blood sugar always remained > 60 Weight loss of 300gm (7.6 to 7.3 kg)
  14. 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 hypercalciuriaAny clue???
  15. 15. Detailed History takenVomiting particularly when given sweet food, fruitsTolerated salty food without any vomiting
  16. 16. Guess what???????
  17. 17. Suspected“ Hereditary Fructose Intolerence”
  18. 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. 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. 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 gene Fluorescent sequencing analysis s/o Homozygous for c.324+1G>A ALDOB mutation
  21. 21. date weight height remarks3/2/11 7.6 73cm26/2/11 7.3 Kept on fructose free diet23/3/11 8.7 75.53/5/11 9.2 76.34/7/11 9.9 807/9/11 10.121/10/11 10.3 82.21/12/11 10.9 83.42/4/12 11.5 86.5
  22. 22. date PH HCO3 Lactate Na K Cl3/2/11 7.25 15.3 2.9 129 3.82 96 Uriliser Soda bicarb12/2/11 7.34 10.9 526/2/11 7.33 18.9 2.6 137.6 4.49 103.4 Fructose free diet4/4/11 7.39 21.8 145 5.08 1013/5/11 7.37 16.2 134 5.26 97 Incresed soda bicarb4/7/11 7.40 18.95/9/11 7.36 22.7 140.4 3.98 99.321/10/11 7.4 21.92/4/12 7.43 23 140.6 4.34 102.3
  23. 23. Urine Ca/Creat ratio: ( normal<0.2) date Urine Ca/creat ratio 22/1/11 1.75 Rocaltrol stopped 4/2/11 1.32 Uriliser started 5/4/11 0.02 2/12/11 0.42 3/4/12 0.38
  24. 24. date Bilirubin SGPT SGOT GGTP Protein SAP (T/D/I) (alb/glob)8/7/10 0.4/0.1/0.3 132 131 126 4.7/1.9 2371/10/10 0.2/0.1/0.1 169 111 52 4.5/2.5 19230/11/10 0.3/0.1/0.2 96 53 4.8/2.3 21522/1/11 0.2/0.1/0.1 1692 1085 27 3013/2/11 901 508 364/4/11 0.18/0.06/0.12 136 3.93/2.18 2764/7/11 88 4942/4/12 0.55/0.09/0.46 160 75.4 4.26/2.72 75.4
  25. 25. Present treatment:  Fructose free diet  Potassium citrate  Sodium bicarbonate  Iron  Multivitamin  Udiliv
  26. 26. Hereditary Fructose Intolerence Disorder of fructose metabolism Deficiency of Aldolase B Autosomal recessive Incidence 1 in 20000 to 1 in 100000 people Most cases reported from Europe and North America
  27. 27. Fructose metabolism fructose fructokinase fructose 1 phosphate aldolase B triose phosphate gluconeogenesis glycolytic pathway glucose pyruvate glycogen triglyceride
  28. 28. FRUCTOSE METABOLISM Hereditary fructose- 1,6-bisphosphatase deficiency results in severely impaired hepatic gluconeogenesis and leads to episodes of hypoglycemia, apnea, hyperventillation, ketosis and lactic acidosis.
  29. 29. Aldolase B Three isoenzymes of aldolase- A,B,C Aldolase A – expressed in muscle Aldolase B- exclusively expressed in liver, kidney, intestine Aldolase C- expressed in brain
  30. 30. Lack of aldolase B Impaired gluconeogenesis and glycolysis Accumulation of fructose 1 posphate leads to - decrease in ATP by causing sequestration of inorganic phosphate - increase in uric acid, magnesium, lactic acid accumulation of fructose leads to dysfunction of liver, kidney and intestine
  31. 31. Clinical features Neonate and infant exclusive on breast feeding- no symptoms After consumption of fructose containg food, - nausea, vomiting, diarrhoea - sweating, giddiness (hypoglycemia) - fatigue, sometime convulsion, coma self-protective aversion to foods containing fructose
  32. 32. Clinical features Long term effects: Failure to thrive liver : hepatomegaly, deranged liver function, cirrhosis Kidney : Fanconi syndrome( proximal tubular dysfunction) metabolic acidosis, electrolyte imbalance, phosphaturia, aminoaciduria, hypercalciuria nephrocalcinosis
  33. 33. Diagnosis fructose tolerance test fructose is injected intravenously and glucose, fructose, and phosphate levels in the blood are monitored. In HFI, glucose will not rise after fructose injection. Biopsy of liver determining of activity of fructose-1-phosphate aldolase. Molecular analysis of DNA mutation in aldolase B gene located on chromosome 9q22.3.5
  34. 34. Treatment Avoidance of fructose, sucrose and sorbitol containing food Treatment of complications - liver dysfunctions - renal fanconi syndrome
  35. 35. Prognosis Excellent for infants who receive rapid diagnosis and treatment. In the absence of substantial hepatic damage, life expectancy is normal.
  1. A particular slide catching your eye?

    Clipping is a handy way to collect important slides you want to go back to later.

×