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Abnormal Liver Function and Immunodeficiency: A Case Study of APECED in a Pediatric Patient

This case presentation discusses a 13-year-old boy with a long history of hypocalcemia, immunodeficiency, and impaired liver function. Key medical history includes episodes of grand mal seizures, chronic mucocutaneous candidiasis, and autoimmune conditions. The patient's condition is characterized by hypoparathyroidism, nephrocalcinosis, and chronic hepatitis. Various diagnostic tests were performed to explore underlying causes such as parathyroid hormone deficiency and autoimmune disorders. This case highlights the complexity of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and its effects on liver function.

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Abnormal Liver Function and Immunodeficiency: A Case Study of APECED in a Pediatric Patient

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  1. Immune Conference By NTUH Ped.R2鄭嘉琪/VS.楊曜旭 /P 江伯倫, 周正成

  2. C.C Abnormal liver function for 2+ years

  3. 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

  4. 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

  5. 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

  6. 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):6.79/5.63; • ALP:1464; γ-GT:67

  7. 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

  8. Our Work Up

  9. 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

  10. 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

  11. 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

  12. 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

  13. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)(APS type I) • Chronic mucocutaneous candidiasis (CMC) • Hypoparathyroidism • Addison’s disease • Other associated disorders

  14. 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; Native23; 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 Titer: WNL

  15. APECEDOther associated disorders

  16. 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: (-)

  17. D/D of chronic hepatitis • Chronic viral hepatitis HAV, HBV, HCV, EBV, CMV infection evidence • Drug induced hepatitis • Metabolic disorder associated with chronic liver dx • Autoimmune hepatitis elevated liver enzyme, ANA(+), biopsy: chronic hepatitis, negative viral infection

  18. 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.

  19. Chronic hepatitis Piece-meal necrosis Limiting plate disruption Enlarged portal area

  20. 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

  21. Discussion

  22. 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

  23. Chronic mucocutaneous candidiasis Oral thrush, onychomycosis without disseminated candidiasis (cause ?)

  24. 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, nutrition 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

  25. OPD f/u

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