nil

1. Congenital Chloride
Diarrhea
Dr Prakash. I

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. 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. 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. 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. 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. 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. 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.  Paed surgery:
Normal findings
Nil advise
 Paed endocrinology:
False positive 17-OHP(neonatal screening)
Repeat serum 17-OHP- normal

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. 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. 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. 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