This document discusses the case of a newborn with Congenital Chloride Diarrhea (CCD) based on the family history of a previous sibling also having CCD. The newborn presented with polyhydramnious and dilated bowel loops seen on ultrasound. Genetic testing of the previous sibling confirmed a diagnosis of CCD. The newborn was treated with electrolyte supplementation and monitoring. Stool studies showed elevated sodium and chloride levels consistent with CCD. The newborn was discharged on oral sodium and potassium supplementation with follow up by pediatric gastroenterology.

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