20151012 Pediatrics
Lysosomal Acid Lipase Deficiency (or LAL deficiency)
今天藥商贊助的紐約Prof. Robert J Desnick - The Mount Sinai Hospital來演講一個可治療的罕見疾病LALD
Infant onset: WD; Wolamn Disease
3-10% of LAL activity
Symptoms:
- Adrenal calcification
- Malabsorption, failure to thrive
- Cachexia
- Microvesicular Steatosis looks like NASH; nonalcoholic steatohepatitis
- hepatosplenomegaly: hepatomegaly and splenomegaly
- jaundice, and a persistent low-grade fever
- Pancytopenia
- Bone marrow dysfunction
- Intestinal villi lipid accumulation
- abdominal distention
- Diarrhea (loose frequent stools)
Later onset: CESD; cholesterol ester storage disease
1-60 y/o
Adulthood type need liver transplantation
Symptoms:
- Accumulation: LSD; lysosomal storage disorder
- hepatomegaly: Liver pathology (Orange liver)(Crystal lipid)(Microvesicular Steatosis)
- Hyperlipidemia: high cholesterol and high triglyceride level
- Elevated AST; aspartate transaminase & ALT; alanine transaminase
- Atherosclerosis
APA; Academic Pediatric Association 建議
5 y/o need liver study and Enzyme assay for LAL deficiency
E8SJM gene mutation associated with cachexia
病理Unknown liver disease: Cryptic liver disease
- Not responded to Statin!
- Transplantation: Bone marrow transplantation 副作用很多
- ERT; Enzyme replacement therapy:
- rhLAL: 以Egg-White 製造，Targeted delivery Coat with M6P; Mannose-6-phosphate
WD 4 month前開始治療，brain正常
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
NEJM 2015 ARISE study
Sebelipase alpha
Every 2 weeks 給藥
Placebo組在open-label後也能拿到藥物
按：
Vice Superintendent Prof. Ni
NTUH沒有 LALD case
Ref.
小兒病歷記錄要點
Prof. Wu AP
若母親有CTD結締組織病 Ex: SLE，需注意新生兒是否有 congenital AV block。
Ref.
"CONCLUSION:The prevalence of CCHB (congenital complete heart block) in newborns of prospectively followed up women already known to be anti-Ro/SSA positive and with known CTD (connective tissue disease) was 2%.This finding is useful with regard to preconception counseling of these women. The risk of delivering an infant with CCHB may be higher in mothers with primary SS (Sjögren's syndrome) or UCTD (undifferentiated CTD) than in those with SLE. Additional electrocardiographic abnormalities such as sinus bradycardia and prolongation of the QT interval may be present in their children."
Arthritis Rheum. 2001 Aug;44(8):1832-5.Risk of congenital complete heart block in newborns of mothers with anti-Ro/SSA antibodies detected by counterimmunoelectrophoresis: a prospective study of 100 women.Brucato A1, Frassi M, Franceschini F, Cimaz R, Faden D, Pisoni MP, Muscarà M, Vignati G, Stramba-Badiale M, Catelli L, Lojacono A, Cavazzana I, Ghirardello A, Vescovi F,Gambari PF, Doria A, Meroni PL, Tincani A.
婦產科GTPALEM:
G (Gravida)
T (term)
Pr (pre-term)
Ab (abortion)
LC (living children)
E is elective abortions and M is multiple
兒科是用G P SA AA
大便顏色 (stool color)
最早是由日本東北帝國大學Dr. Matsui發表在Lancet letter
台灣推行 嬰兒大便卡後 ，膽道閉鎖患者在出生 60 日內完成手術由40%→70%
嬰兒奶粉
湯匙分兩種，一湯匙加30cc, 60cc水
出生3.1-3.5kg, 第一個月要長1kg以上
純母奶四個月開始加
配方奶六個月
生長及發育
陳偉德教授 中國醫藥大學北港附設醫院
Chen W, Chang MH. New growth charts for Taiwanese children and adolescents based on World Health Organization standards and health-related physical fitness. Pediatr Neonatol. 2010;51:69-79
翻身 roll over（4~6 個月）
開始會翻身時要提醒父母親小心不要讓嬰兒翻身從高處跌落。另外要使用
吸水性好的床單及寢具，避免嬰兒在四到六個月因為嘔吐物或是口水浸濕床單，又無法從趴著翻回來到平躺狀態而窒息猝死。
病歷寫作
預防接種 不要寫as schedule
家族史 至少畫三代
Weekly summary主要是給值班醫師快速了解病人狀況，解釋給
病人遠房親屬週末探訪
若母親有 SLE，則需注意新生兒是否有 congenital AV block。
CONCLUSION:The prevalence of CCHB (congenital complete heart block
) in newborns of prospectively followed up women already known to be anti-Ro/SSA positive and with known CTD (connective tissue disease) was 2%.This finding is useful with regard to preconception counseling of these women. The risk of delivering an infant with CCHB may be higher in mothers with primary SS (Sjögren's syndrome) or UCTD (undifferentiated CTD) than in those with SLE. Additional electrocardiographic abnormalities such as sinus bradycardia and prolongation of the QT interval may be present in their children.
Arthritis Rheum. 2001 Aug;44(8):1832-5.Risk of congenital complete heart block in newborns of mothers with anti-Ro/SSA antibodies detected by counterimmunoelectrophoresis: a prospective study of 100 women.Brucato A1, Frassi M, Franceschini F, Cimaz R, Faden D, Pisoni MP, Muscarà M, Vignati G, Stramba-Badiale M, Catelli L, Lojacono A, Cavazzana I, Ghirardello A, Vescovi F,Gambari PF, Doria A, Meroni PL, Tincani A.
Vaccination
Prof. Chang P
OPV（oral polio vaccine）因為仍然有兩百萬分之一感染機率
現在沒有打了
2 種以上的 live vaccine 之間，至少需隔4 週以上才可以再打下一劑。因為提早打的免疫反應比較差。
HBV疫苗沒打的小朋友有可能長hepatoma
ＰＣＶ１０ GSK有 protein D減少中耳炎
２,４,６,１２ （第三劑要自費）
Varicella vaccine 目前公費是１歲打
美國建議4-6 y/o可以打第二劑
Pediatric Bacterial Infection
Prof. Liu AP
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| 生化指標只對大多數有效，少數偏離的無法診斷 |
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| 兒童的細菌感染是 age dependent |
IPD; invasive pneumococcus disease要小心
