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What is wrong with Kobe ?

This case study presents a 6-month-old black male with symptoms of lethargy and decreased feeding during a heat wave, showcasing his journey from admission to the discovery of cystic fibrosis through sweat tests and stool studies. The narrative delves into the importance of early diagnosis and the prevalence of this autosomal recessive disorder, providing insights into its genetic basis and manifestation in infants.

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What is wrong with Kobe ?

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  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

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