Problem Case 내분비 대사 내과 R2 송 란

내원 3년 전 부터 양쪽 대퇴부 통증 있어 동네 의원에서 진통제 투약 받음. 11741539 F/68 노0순 내원일: 04.10.16 주소: 전신 골격계 통증 시작일: 2개월 전 현병력 내원 3년 전 부터 양쪽 대퇴부 통증 있어 동네 의원에서 진통제 투약 받음. 01년 3월경 요추의 추간판탈출증으로 수술 후 골다공증 진단 받고 03년 10월경 미끄러지면서 넘어져 양측 대퇴골 경부 골절로 노원 을지 병원에서 수술 시행. 내원 2개월 전부터 왼쪽 대퇴부와 양쪽어깨의 통증과 함께 전신의 골격계 통증이 지속되어 추가 검사 및 치료 위해 본원 신경과 입원.

과거력 당뇨 : 1년 6개월 전, Gliclazide 80mg qd 고혈압 : 10년 전, Amlodipine 5mg qd. 결핵(-) 간염(-) 골다공증 : 3년 전, Calcitriol 0.25ug qd. 수술력 : 요추 추간판탈출증 , 01년 3월, 포천제일 병원 양측 대퇴골 경부 골절 both Internal Fixation, 03년 10월, 노원을지 병원 알레르기(-) 가족력 : 특이 사항 없음 개인력 : 술(-) 담배(-) 직업: 식당 운영

REVIEW OF SYSTEM General : fatigue(+) weight loss(-) fever(-) chills(-) Skin : rash(-) pigmentation(-) Itching(-) Head & neck : headache(-) dizziness(-) neck pain(-) Eye & ENT : sore throat(-) dry mouth(-) visual disturbance(-) Breast : pain(-) lump(-) discharge(-) Respiatory : cough(-) sputum(-) dyspnea(-) Cardiac : chest discomfort(-) orthopnea(-) palpiation(-) Gastointestinal : nausea(-) vomiting(-) diarrhea(-) constipaition(-) abdominal pain(-)

Renal & urinary : dysuria(-) frequency(-) nocturia(-) Gynecologic : menopause(+) : 11년 전 ( 57세 ) discharge(-) abortion(-) Musculoskeletal : cramps(-) weakness(+) pain(+) : both shoulder,Lt.elbow both medial thigh (Rt.>Lt.) 전신의 골격이 부서지듯이 악화 - motion 완화 - resting Endocrine : weight gain(-) polydipsia(-) heat intolerance(-) Neurology : dizziness(-) tremor(-)

PHYSICAL EXAMINATION V/S : 130/70 mmHg - 78/min - 20/min - 36.5℃ B.W. 50 kg Ht. 158 cm B.M.I. 20.06 kg/m2 A.C. 88 cm General Alert mental status, Chronically ill looking apearance Skin No bruisiness No striae No pigmentation Head & neck Normocephaly No thyroid enlargement , No palpable thyroid mass No palpable enlarged lymph node No neck vein enlargement

Isocoric pupils with pupil light reflex(++/++) Eye & ENT Isocoric pupils with pupil light reflex(++/++) Throat injection(-) Chest Clear breathing sound without rale or wheezing Regular heart beat without murmur Diffuse tenderness on the both chest wall Abdomen Normoactive bowel sound Soft & flat abdomen No hepato splenomegaly Tenderness/Rebound tenderness(-/-)

Back & Extremities Neurology Pretibial pitting edema(-/-) CVA tenderness (-/-) Pretibial pitting edema(-/-) Both shoulder, Lt.elbow, Pelvis, T-L-S SPINE both medial thigh (Rt>Lt)  direct tenderness, LOM (-) Neurology muscle tone: normal rigidity(-) mortor sensory v v 100 100 v v 100 100

IMPRESSION R/O Tendinitis R/O Connective tissue disease Known Osteoporosis R/O Fibromyalgia R/O Tendinitis R/O Connective tissue disease R/O Multiple bone metastasis of unknown origin tumor Known L-spine HIVD s/p op. Both femur neck fracture s/p both Internal Fixation

DIAGNOSTIC PLAN Osteoporosis Serum Ca, P 24h urine Ca, P PTH 25-hydroxy-vitD3 / 1,25-dihydroxy-vitD3 Bone formation marker : ALP, Osteocalcin Bone resorption marker : urine NTX urine total free deoxypyridinoline T3,FT4,TSH X-ray : chest, both shoulder, both elbow, T-L spine, both femur Bone mineral density (BMD) Connective tissue disease CRP ANA,C-ANCA,P-ANCA, RF Bone metastasis Tumor marker Bone scan

Laboratory Finding (04.10.16) CBC/DC 9300/mm3- 11.5 g/dL – 33.8 % - 271000/㎣ (Seg. 74 %) Chemistry TB/DB 0.3/0.1 mg/dL T-cholesterol 154 mg/dL AST/ALT 23/21 U/L ALP 316 U/L Pro/ALB 8.0/4.6 g/dL BUN/Cr 18/1.2 mg/dL Glucose 235 mg/dL Na/K/Cl 138/4.5/105 mmol/L Ca/P/Mg 8.2/1.9/2.2 mg/dL Ca x P = 8.2 x 1.9 = 15.58 Ionized calcium 1.07 mmol/L (NL : 1.12-1.30) Urine analysis RBC 0-1/HPF WBC 0-1/HPF PH 5.0 S.G. 1.015 Protein (-) Glucose (-) O.B.(-) ketone (-)

ANA(Qual) (-) RF < 20 IU/mL C-ANCA (-) P-ANCA (-) Serology CRP(Quant) <0.5 mg/dL ANA(Qual) (-) RF < 20 IU/mL C-ANCA (-) P-ANCA (-) RPR(VDRL) (-) Cryoglobulin (-) 24h-urine (04.11.01) Ca : 69 mg/day (NL:100~240 mg/day) P : 347 mg/day (NL:900~1300 mg/day) Creatinine : 620 mg/day (NL:800~1800 mg/day)  TRP = (1- ) x 100 = 70.55 % P.(u) x Cr.(s) P.(s) x Cr.(u)

Tumor marker 내분비 기능 검사 TFT T3 154 ng/dL (NL: 80~200 ng/dL) CA 19-9 : 1.0 U/mL (NL <37 U/mL) AFP : 1.99 ng/mL (NL <4.0 ng/mL) CEA : <0.2 ng/mL (NL <4.1 ng/mL) CA125 : 4.6 U/mL (NL <35 U/mL) CA15-3 : 8.5 U/mL (NL <28 U/mL) B-hCG : 2.8 mlU/mL (NL <5 mlU/mL) 내분비 기능 검사 PTH : 17.3 pg/mL (NL :13~54 pg/mL) Osteocalcin : 3.4 ng/mL (NL:1.8~6.6 ng/mL) deoxypyridinoline(U) : 13.49 nm/mM (NL : 2.3-7.4 nm/mM) 25-hydroxy-VitD3 : 27.8 ng/mL (NL: 11-70 ng/mL) 1,25-dihydroxy-vitD3 : 24.2 pg/mL (NL: 25-66 pg/mL) TFT T3 154 ng/dL (NL: 80~200 ng/dL) FT4 1.14 ng/dL (NL: 0.77~1.94 ng/dL) TSH 3.80 μu/ml (NL : 0.3-4.0 μu/mI ) HbA1C 5.1 % (NL : 4.0~6.0 %)

Chest PA (04.10.16)

L - spine (04.10.16)

Lt.Shoulder (04.10.16)

Lt.Forearm (04.10.16)

Both Hand (04.10.16)

Both Femur AP (04.10.16)

Knee AP, Lat. (04.10.16)

L-Spine BMD (04.10.21)

Lt. Femur BMD (04.10.21)

Bone Scan (04.10.22)

Chest CT (04.10.26) Abdominal sono (04.10.18) Multiple subsegmental atelectasis on both lower lobes. Mosaic attenuation, possible due to vascular disease or small airway disease. Possible multiple old rib fractures, less likely bone metastasis. Abdominal sono (04.10.18) Mild fatty liver and right hepatic cyst.

Impression II Hypophosphatemic Osteomalacia d/t Tumor r/o X-linked hypophosphatemic rickets r/o Autosomal dominant hypophosphatemic rickets

Tetracyclin labelling 본원 내분비 내과로 전과 (04.11.03) Bone biopsy 계획 Tetracyclin labelling For 3 days Wait for 14 days For 3 days Wait for 5 days 11/12 11/15 11/29 12/02 12/07 Tetracyclin 250mg Tid declomycin 300mg bid Bone biopsy

Bone biopsy - Rt. ilium 04.12.07

Rt. Thigh Sono. (04.12.16) Size : 37 x 30 x 27 mm

Rt. Thigh MRI -Axial (04.12.22) Size : 40 x 32 x 28 mm

Rt. Thigh MRI –Coronal (04.12.22)

Excisional Biopsy ( 04.12.29 ) - Rt. thigh

Final Diagnosis Oncogenic Osteomalacia d/t Phosphaturic Mesenchymal Tumor

Clinical course I Excisional bx. (04.12.29) 04.11.01 04.11.10 04.12.01 04.12.15 05.01.06 05.01.12 P(S) mg/dL 1.9 2.0 1.6 3.3 3.8 Cr.(S) mg/dL 1.0 1.1 0.8 0.7 P(U) mg/dL 347 280 235 288 358 326 Cr.(U) mg/dL 620 548 566 639 798 683 FeP (%) 29.45 25.54 24.03 22.53 9.51 8.79 TRP(%) 70.55 74.46 75.97 77.47 90.49 91.21 TRP : Tubular Resorption of Phosphate

Clinical course II PTH level Excisional bx. (04.12.29) PTH level 04.11.02 04.12.16 05.01.03 05.01.14 PTH (pg/mL) (NL :13~54 pg/mL) 17.3 21.9 17.9 80.3 Osteocalcin : 3.4 ng/mL (Adm.)  11.1 ng/mL (05.01.02) (NL:1.8~6.6 ng/mL)