immune conference by ntuh ped.r2 鄭嘉琪 /vs. 楊曜旭 /p 江伯倫, 周正成
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Immune Conference
By NTUH Ped.R2 鄭嘉琪 /VS. 楊曜旭/P 江伯倫 , 周正成
C.C
Abnormal liver function for 2+ years
Brief Hx
1. Birth history: G1P1, GA: 42wks, NSD, BW: 3780gm, PROM (-), DOIC (-), perinatal insult (-), neonatal hyperbilirubinemia (-) 2. Vaccination: As scheduled, Hibx3. 3. G & D: BW: 43kg ( 25-50 th percentile) BH: 144cm ( 3-10 th percentile) DMS: WNL 4. Maternal history: n.p 5. Previous history: n.p 6. Family history: no contributory
P.I.• 1993 (4y/o) in 高醫 hospital ‧Several episodes of GTC ‧Hypocalcemia Hypoparathyroidism(PTH<8pg/ml) -Ca. carbonate 5# qd and calcitriol 5# qd • 1997 (8y/o) ‧Frequent infections (HSV, oral thrush, submandibular cellulitis); pneumonia r/o sepsis -> admitted 高醫 hospital• T-cell immune deficiency was found
P.I.• 2000 ( 11 Y/O) -> Admitted to 高醫 hospital
• Hypoparathyroidism & hypocalcemia
• T3,T4, TSH, ACTH and cortisol: WNL
• T cell & B cell number: WNL
• T cell & B cell function: WNL
• Total T cell:74.2; Active T cell:27.29
• Total B cell: 20.42
• CD4 36.13; CD8:28.79
P.I.• 2000 ( 11 Y/O)• Impaired liver function GOT/GPT: 97/104; Bil(T/D): 1.53/0.49
‧ Gallstone and medullary nephrocalcinosis• Anemia: IDA or chronic dx related• 2002.4(13y/o) -> 小港 hospital • Abnormal liver function• Amnonia:195;GOT/GPT:403/411; Bil(T/D):6.7
9/5.63;• ALP:1464; γ-GT:67
Nail onychomycosis
Nail dystrophy
Brief hx Summary
13 y/o 7 m/o boy :
(1) GTC-> Hypocalcemia-Hypoparathyroidism since 4
y/o,1993, s/p Ca and Vit D3 supplement
(2) Chronic mucocutaneous candidiasis (oral thrush,
onychomycosis), viral infection
(3) Vitiligo, enamel hypoplasia, nail dystrophy
(4) Anemia, cause to be determined since 8y/o, 1997
(5) Impaired liver function since 11y/o, 2000
(6) Gallstones and nephrocalcinosis since 11y/o, 2000
Our Work Up
Hypocalcemia
• 24hr Ca2+ excretion: 1.75mg/kg/day• 24hr CCR: 145.2 cc/min/1.73m2• Urinary Ca/Cr ratio: 0.09• 24hr Mg2+excretion: 0.05mmol/kg/day • % TRP: 98.2% • iPTH < 1 pg/ml
2002.7.2 Ca P Mg Cre
Serum 1.54 9.5 0.73 0.5
Urine 3.59 51.6 4.14 152.2
D/D of Hypocalcemia
• Parathyroid hormone (PTH) deficiency
• PTH receptor defects (pseudohypoparathyroidism)
• Ca2+ -sensing receptor activating mutation
• Magnesium deficiency
• Exogenous inorganic phosphate excess
• Vitamin D deficiency
D/D of PTH deficiency
* Aplasia or hypoplasia of parathyroids
& DiGeorge syndrome ; Velocardiofacial syndrome
* Surgery
* Autoimmune parathyroiditis
& Autoimmune Polyendocrinopathy-Candidiasis-
Ectodermal Dystrophy (APECED)(APS type I)
& Wilson disease
* Idiopathic hypoparathyroidism
R/O DiGeorge syndrome
• Parathyroid glands aplasia/ hypoplasia
→ hypoparathyroidism (+)
• Thymus aplasia/ hypoplasia (?)
→ T-cell immunity deficiency (+)
‧Congenital heart disease (atrial and ventricular septal defects) (-)
‧Anomalies of the great vessels (-)
‧Facial anomalies: (-)
‧Chromosome: normal
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)(APS type I)
• Chronic mucocutaneous candidiasis (CMC)
• Hypoparathyroidism
• Addison’s disease
• Other associated disorders
CMC- Immunodeficiency ?• T.B cell amount( 07/05 ): WNL IgG, IgA, IgM: WNL T cell: 82; B cell: 9, NK cell:7; CD8:32, CD4:44; Nativ
e23; Memory:21.• Mitogen stimulation test (proliferation ): normal • Candida delayed skin test: (-) Induration< 1 cm at 48 hour & 72 hour• T cell function to candida: decreased• B-cell function: blood type: O ; Anti-A Titer, Anti-B Tite
r: WNL
APECED Other associated disorders
Endocrine components
Prevalence
%
Non-endocrine components
Prevalence%
Ovarian failure 60 Enamel hypoplasia 77
IDDM 18 Nail dystrophy 52
Testicular atrophy 14 T.M calcification 33
Parietal cell atrophy 13 Alopecia 27
Hypothyroidism 6 Keratopathy 22
Non- endocrine Vitiligo 13
Cholelithiasis rare Autoimmune Hepatitis
13
Asplenism rare Intestinal malabsorption
10
APECED-Other Endocrinopathy w/u
• Cortisol, ACTH: WNL
• Anti-microsomal Ab, thyroglobulin Ab: (-)
T3, T4, free T4, hs TSH:WNL
• FSH, LH, and testosterone: WNL
• HbA1C, AC sugar: WNL
• Gastric parietal cell Ab (-)
• Anti-parathyroid Ab: (-)
D/D of chronic hepatitis
• Chronic viral hepatitis HAV, HBV, HCV, EBV, CMV infection evidenc
e• Drug induced hepatitis• Metabolic disorder associated with chronic liver d
x• Autoimmune hepatitis elevated liver enzyme, ANA(+), biopsy: chronic h
epatitis, negative viral infection
Chronic Hepatitis w/u • Liver span: 2fb below RCM• Anti-HAV; HbsAg, AntiHbs-Ag;Anti-HCV(-) • EBV: no recent infection • CMV IgM, IgG: (-) • Ceruloplasmin : WNL• Elevated liver enzyme• Autoimmune hepatitis: anti-smooth muscle Ab
(-) and ANA (+)• Liver echo: increased echogenicity, gallstone.
Chronic hepatitis
Piece-meal necrosis
Limiting plate disruption
Enlarged portal area
Work up Summary at NTUH• Definite diagnosis * Hypoparathyroidism * Nephrocalcinosis * Chronic mucocutaneous candidiasis (CMC) * T cell immunodeficiency * Ectodermal dystrophy: vitiligo, enamel hypoplasia, nail dystrophy * Chronic hepatitis (autoimmune hepatitis) * Anemia• Combined hypoparathyroidism,CMC,and chronic hepatitis in
OMIM -> Tentative Dx: APECED
Discussion
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)(APS type I)
• Chronic mucocutaneous candidiasis (70%, <5 y/o)
• Hypoparathyroidism (90%, >3 y/o)
• Addison’s disease (90%, > 6 y/o)
• Other associated disorders
• AIRE(autoimmune regulator) gene mutation
Chronic mucocutaneous candidiasis
Oral thrush, onychomycosis without disseminated candidiasis (cause ?)
In our patient
• Autoimmune hepatitis: Steroid full dose for autoimmune process -> f/u liver function and immune profile at OPD
• CMC: Give topical anti-candida drug • Hypoparathyroidism: Keep Ca and vit D3, nutritio
n education of Ca & P balance for prevention of nephrocalcinosis progression -> check level and f/u renal echo per year
• Educate the patient about possible disorders in the future, like Addison’s disease and adequate mx
OPD f/u GOT GPT ALP LDH Ca P Am-m
oniaANA medication
7/2 89 64 1397 599 1.54 9.5 86 1:640 nil
7/15 18 29 1657 553 1.63 4.8 67 1:40- Predonine Sandimmun
Oral thrush
7/22 88 89 1738 581 1.38 0.4 Predonine, Sandimmun, Imuran
8/1 24 29 1.42 6.8
8/3 30 32 862 1.01 10.
8/5 32 35 1073 614 1.38 7.5 Imuran, Predonine
Reference
• Behrman: Nelson Textbook of Pediatrics, 16th ed
• Goldman: Cecil Textbook of Medicine, 21st ed.
• Wilson: Williams Textbook of Endocrinology, 9th ed.
• The Pediatric Infectious Dis. J. 2001;20;197-206
• Current Opinion in Infectious Dis. 2002,15:143-147
• The Journal of Clinical Endocrinology & Metabolism 87(6):2568-2574
• Human Molecular Genetics Pages 1547-1553
Thank for Your Attention!
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