Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Congenital chloride diarrhea (1) (1)

159 views

Published on

nil

Published in: Health & Medicine
  • Be the first to comment

  • Be the first to like this

Congenital chloride diarrhea (1) (1)

  1. 1. Congenital Chloride Diarrhea Dr Prakash. I
  2. 2. The patient  b/o ABC  29 ys,P2+1, 33 wks., booked, local lady  ANSS severe polyhydramnious, dilated bowel loops with ? Dudeno-jejunal atresia, AFI-36.7  HBsAg, HIV-Neg, Rubella- Immune  Previous sibling Congenital Chloride Diarrhea
  3. 3. h/o previous sibling  36 weeks, AGA  ANSS: polyhydramnious, dilated bowel loops  D1: Passed large watery stool  NICU (LH): 45 days  Paed gastroenterology consulted (GOS Hosp/DH) Admitted in UK twice (for evaluation)
  4. 4. Previous sibling….  Impression of Paed gastroenterologist (UK)  Confirmed diagnosis of CCD  Advised-Genetic testing for the gene associated with CCD (SLC26A3/6)  Endoscopy showed: lymphonodular hyperplasia in the colon, mild increase in eosinophil density
  5. 5. Advice in UK (previous sibling….)  Electrolyte supplementation  Oral butyrate to be considered  f/u 4 times a year  Review by nephrologist  Monitor blood gas, electrolytes, growth, creatinine and urine chloride  Clinical genetic referral
  6. 6. The patient  Emergency LSCS, Indi: placental abruption  Apgar score: 6-1’ & 8-5’  Cried immediately →developed apnea. PPV given and intubated, Improved clinical status  Baby passed large volume watery stool (yellow fluid)  Growth parameters, vitals -normal
  7. 7. On examination  Chest: good bilateral air entry with secretions  CVS :S1 S2 normal, no murmur  Abdomen: soft, distended with visible bowel loops. Liver-3 cm  Normal external female genitalia  CNS : normal tone, power & reflex, pupillary light reflex normal
  8. 8. In NICU  Respiratory support (invasive/non invasive): 8 days  Chest and abdomen X ray: No signs of GI atresia  Serum chloride: normal since birth except on few occasions  AUSS, BUSS: Normal  IV antibiotics, Septic screening negative
  9. 9.  Paed surgery: Normal findings Nil advise  Paed endocrinology: False positive 17-OHP(neonatal screening) Repeat serum 17-OHP- normal
  10. 10. Paed gastro advice  To do stool Cl, Na, K (diagnostic), CBG, pH stool, urinary sodium, serum renin and aldosterone  Hydration and correct electrolyte imbalance  Na and K supplementation  Check electrolytes daily  Calorie intake-150 cal/kg/day (according to tolerance)  Success of treatment means: weight gain, stabilize serum Na, K, Cl, and improve the alkalosis
  11. 11. Investigations  Karyotype: 46 XX(Normal)  Aldosterone-N, Renin-↑  LFT, Serum osmolality- normal  Urine pH, osmolality, specific gravity, Na, Cl (random): Normal  Urine culture-sterile  Urine reducing substance- negative  Stool  Sodium: 5 mmol/ random (0.5-12.5)  Potassium: 6.2 mmol/ random(3.1-19.5)  Chloride:4.4+(random)( 0.5-3.0)  CT-Pro vasopressin (co- peptin) 5.20 pmol/L Abroad
  12. 12. Feeds  Started on oral feeds (EBM) on day 5 of life  Intermittently large watery stool (7 to 8 X) + abdominal distension  Feed volume adjusted  Full calories was given  EBM → LBW milk, stool consistency improved  Discharged on LBW milk
  13. 13. At the time of discharge  Wt:2.965kg, HC:32.7cm  General exam- normal  Abdomen: distended but soft  On full oral feeds ,tolerating, passing urine and formed stool  S.Na:134mmol/L,K:3.6mmol/L,Cl:100mmol/L  Discharge medications/plan  Oral sodium  Oral potassium  Paed gastroenterology F/U in DH after 2/52

×