What is wrong with Kobe ?

1. What is wrong with Kobe ? By Brent Lee Lechner,DO MAJ, MC, USA

2. APACHE

3. History • 6 month old black male • Presented to Stamford Hospital with lethargy and decreased feeding • During “recent heat wave” had decreased po intake for two days • Mother indicated only two wet diapers in past 48 hours

4. History • No recent fever, diarrhea or vomiting • No coughing or runny nose; No ill contacts • Mother noted “puffy” eyes • Always slightly fussier than twin sister and requires more attention • Irregular sleep habits and worsening sleep pattern over the past two weeks.

5. PMHx NSVD @ 36 weeks Twin B @ 6lb 6 oz No complications Twin A: sister @ 5lb 5oz No NICU course No hospitalizations No surgeries Development Normal for Age Rolls over Coos Laughs IMM: UTD Allergies: NKDA History

6. Social history Lives @ home with mother (age: 34) Brother: 11 yo Twin Sister: 6 month Mother is smoker but not in the house Diet No breastfeeding Enfamil with iron Stage I Gerber food History

7. Physical Examination Vss T:36.1 BP: 92/53 R:52 P:152 PO2: 100% OFC: 42 cm (10%) H:65 cm (25%) W: 6 kg (<3%) General: Engaged, Alert Baby Head: AFOSF,0 lesions Chest: RRR, S1, S2, 0 m Eyes: PERRLA, EOMI Lungs: B CTA w/o wheezing Ears: B clear TM Abd: Soft, ND/NT, 0 mass Nose: non-swollen turb Umbilical hernia, 0 HSM Throat: MMM, non-red Ext: 0 c/c/e; FROM; Cap refill <2s Neck: 0LA, 0 mass, supple Pulses: 2+/2 all extremities Neuro: normal tone;good suck Genitalia: descended testes hand grasp; non-focal circumsized

8. Chem 10 Na: 124 mEq/L K: 2.7 mEq/L Cl: 68 mEq/L HCO3: 36 mEq/L BUN: 22 mmol/L Creat: 0.4 mg/dl Ca: 11.0 mg/dl Mg: 2.3 mEq/L Alb: 1.8 mg/dl TP: 3.4 mg/dl UA: negative SG: 1.004 pH: 8.0 Glucose (-) Ketones (-) Blood (-) Protein (-) LE (-) Nitrite (-) Micro: Negative Initial Labs

9. Initial Treatment • Stamford ED: (10 cc/kg ) NS bolus • Stamford Admitted and placed on: D5 ½ NS with 30 mEq/L KCl on a five percent rehydration schedule • Day#2 am: Transferred to Yale initiated

10. Bradley Fighting Vehicle

11. Additional Studies • Urine Lytes • Na: 9 mEq/L • K: 79.9 mEq/L • Cl: <10 mEq/L • Creat: 60.8 mg/dl • Osm: 514 mmol/L • Thyroid Studies – Within Normal Limits

12. Chem 7 Na: 134 mEq/L K: 3.8 mEq/L Cl: 101 mEq/L HCO3: 23.5 mEq/L Urine Lytes Ca: 1.5 mg/dl Na: <10 mEq/L Cl: 23 mEq/L K: 12 mEq/L Cr: 14.4 mEq/L Ca/Creatinine: 0.1 Rehydration Labs

13. M2 Abrahms Tank

14. Saline Sensitive Total Body Chloride Depletion Persistant Vomiting NG Suction Diuretic Use Congenital Chloridorrhea Posthypercapnia State Cystic Fibrosis Saline Non-response Mineralocorticoid Excess Hyperaldosteronism Cushing Syndrome Licorice Ingestion Molecular defect in Cl reabsorption Gitelman and Bartter’s syndrome Metabolic Alkalemia

15. Diagnosis Found • Sweat Test results • Positive • Right arm: 101 mm/L Chloride • Left arm: 98 mm/L Chloride • Normal: <40 mm/L • Stool Studies showed marked increased fat • No Genetics done at this point

16. Cystic Fibrosis • Autosomal Recessive Disorder • Incidence: 1 in every 3200 births • African-American Incidence: 1 in 15,000 • 10 – 15 % of infant cases present as hyponatremic, hypokalemic Metabolic Alkalemia • 850 Mutations seen • Gene: Long Arm of Chromosome 7, spans 250 kb • Cystic Fibrosis Transmembrane Conductance regulator (CFTR) mutation

17. CFTR MUTATIONS

18. MLRS