This document discusses two clinical cases involving infants with feeding difficulties. The first case involves a 1-month-old male infant with watery diarrhea since birth that did not improve with a cow's milk protein partial hydrolysate formula. The second case involves a 1-month-old female infant admitted with watery diarrhea who was rotavirus positive and had recurrent diarrhea after being discharged. The document provides background on types of lactase deficiency, diagnostic approaches, and discusses potential diagnoses and treatments for the cases, including lactose intolerance, cow's milk protein allergy, and congenital diarrhea. It emphasizes using an evidence-based approach to evaluate the cases.

1. WHEN FEEDING IS A PROBLEM!
高醫 兒童胃腸肝膽科
施相宏醫師
嬰幼兒腸胃問題案例分析
實證醫學觀點

2. Clinical Scenario 案例一
A 1-month-old male baby was brought to our
newborn clinics, requesting HB vaccine & “complete”
health examination (including 全身超音波檢查)
At 46d/o, severe watery stool >10 times/day
(improved after lactose-free formula, AL-110), GE
reflux & gaseous abdominal distention => our GI
clinics
 G1P1, GA 39wk, BBW 3400gm
 Current BW: 4.8kg
 Diarrhea since birth after breast feeding, not responsive to a
cow’s milk protein partial hydrolysate formula

3. 實證醫學分析步驟

6. Background Questions
Background questions ask for general knowledge
about an illness, disease, condition, process or thing.
These types of questions typically ask about things
like a disorder, test, or treatment, etc.
 What is the diagnosis?
 Who will be affected? (age, risk group, incidence)
 Where: TOCC (travel, occupation, contact, cluster)
 When: incubation, course (acute/subacute/chronic)
 How: pathophysiology, diagnostic & treatment
approaches
 Why: etiology

7. Background Questions
In case 1:
 What?: lactose intolerance, congenital?
 Who?: newborn, very rare?
 Where => 不相關
 When: types of lactase deficiency
 How: breath hydrogen test, acidic/watery stool
with bloating, excluding other causes
 Why: available gene test?

8. Pre-appraised Evidence: 6S Model

9. Pre-appraised Evidence: Summaries
Explicit review
 Clinical Evidence (www.clinicalevidence.com)
 Dynamed (https://dynamed.ebscohost.com)
Non-Explicit review
 UpToDate (http://www.uptodate.com/home)
Clinical practice guidelines (CPGs)
 National Guidelines
Clearinghouse(http://www.guideline.gov)
 be sure that the CPG is current and that the
recommendations are evidence-based (i.e., accompanied by
levels of evidence)

12. Types of lactase deficiency
Primary: attributable to relative or absolute
absence of lactase that develops in childhood at
various ages in different racial groups and is the
most common cause of lactose intolerance
 also referred to as adult-type hypolactasia, lactase non-
persistence, or hereditary lactase deficiency
Secondary: results from injury to the small
intestinal mucosa, such as acute gastroenteritis,
persistent diarrhea, small bowel bacterial
overgrowth, cancer chemotherapy
 can present at any age but is more common in infancy

13. Types of lactase deficiency
Congenital lactase deficiency is extremely rare;
teleologically, infants with congenital lactase
deficiency would not be expected to survive before
the 20th century, when no readily accessible and
nutritionally adequate lactose-free human milk
substitute was available
Developmental lactase deficiency is now defined as
the relative lactase deficiency observed among
preterm infants of less than 34 weeks’ gestation

14. Congenital lactase deficiency?
Congenital lactase deficiency is a rare disorder that has
been reported in only a few infants. Affected newborn
infants present with intractable diarrhea as soon as
human milk or lactose-containing formula is
introduced
Small intestinal biopsies reveal normal histologic
characteristics but low or completely absent lactase
concentrations
Unless this is recognized and treated quickly, the
condition is life-threatening because of dehydration
and electrolyte losses
Treatment is simply removal and substitution of
lactose from the diet with a commercial lactose-free
formula

15. Foreground Questions: PICO(Time)
Foreground questions ask for specific knowledge to
inform clinical decisions. These questions typically
concern a specific patient or particular population
Patient and/or specific problem: 相關研究之「病人」
族群？特定之病因或臨床問題？
Intervention/or exposure: 有興趣的治療處置、診斷工
具或暴露因子為何？
Comparison (if relevant): 如果有的話，對照組的處置、
診斷工具或暴露因子為何？
Outcomes: 與病人最相關之（可測量）結果是什麼？
關鍵字搜尋。接下來，就是分辨臨床問題的型態，最常
見的是治療、傷害、診斷、預後與病因等類別

16. Foreground Questions
Therapy: Questions of treatment in order to
achieve some outcome. May include drugs, surgical
intervention, change in diet, counseling,
etc. Diagnosis: Questions of identification of a
disorder in a patient presenting with specific
symptoms. Prognosis: Questions of progression of
a disease or likelihood of a disease
occurring. Etiology/Harm: Questions of negative
impact from an intervention or other exposure.

17. Background vs. Foreground Questions
Background questions
 用以判斷病人主要臨床問題為何？可能的診斷及
治療方向？
 Feeding difficulty?
 Normal stool pattern during breast feeding?
 GERD in infancy, infantile colic
 Food (lactose) intolerance
 Food (cow milk protein) allergy
 Congenital diarrhea (Intractable diarrhea of
infancy)

18. Background vs. Foreground Questions
Foreground questions
 詳細病因學診斷？其他鑑診？確診工具？
 Lactase deficiency, congenital?
 您覺得夠滿意了嗎
更好的治療方式
其他可能的病因
預後如何
風險：下一胎機率？環境或是遺傳？

20. 搜尋醫學文獻

21. PubMed

22. PubMed

23. 後起之秀 Google Scholar

24. 後起之秀 Google Scholar
NOTE: It is not clear how much of the
literature is included in Google Scholar.

26. EBM Levels of Evidence Pyramid

27. Critical Appraisal: VIP method

28. Validity: RAMbo analysis

30. Apply to the Patients
Patient-centered, evidence-based practice

31. Clinical Scenario 案例二
A 1-month-old female baby was admitted to our CNU
for watery diarrhea. Stool rotavirus (+). Fail to
supportive care & lactose-free formula.
Malabsorption? Use semi-elemental formula (Alfare)
with fair response.
After discharge and gradually shift back to lactose-
free formula, recurrent diarrhea, decreased activity &
poor BW gain…
Admission again to our GI service, WHAT IS NEXT?

32. Background vs. Foreground Questions
Background questions
 用以判斷病人主要臨床問題為何？可能的診斷及
治療方向？
 What is TENTATIVE DIAGNOSIS?
 Recurrent rotavirus infection or secondary infectious
enterocolitis?
 Immune deficiency?
 Lactose intolerance, secondary?
 Food (cow milk protein) allergy
 Congenital diarrhea (Intractable diarrhea of infancy)

33. Background vs. Foreground Questions
Foreground questions
 詳細病因學診斷？其他鑑診？確診工具？
 Cow’s milk protein allergy with failure to
thrive
 您覺得夠滿意了嗎
更好的治療方式
其他可能的病因
預後如何
風險：下一胎機率？環境或是遺傳？

34. TO FEED OR NOT (HOW) TO FEED:
THAT’S THE QUESTION!
感謝聆聽，敬請指教

35. Suggested Reading

36. Suggested Reading

37. Suggested Reading

38. ONE MORE THING…

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