Case presentation

Speaker:

Supervisor:

C1 李玟軒

R2 張喬翔

Vs 許育瑞

General Data

• Name: 汪XX

• Male

• 21 y/o

• ID : 25XXXX8

2

Chief complaint

• Soreness over the bilateral lower back for one week and nausea with fever up to 38.5 for three days.

3

4

Present illness: The patient with history of brown stone passage since he was a 6-

month-old boy. He was admitted to 林口長庚 hospital for therapy.

But no significant metabolism disorder or other disease was noted. 20000613: Ca 9.7 mg/dL K 4.7 mmol/L P 4.4 mg/dL Mg 2.0 mg/dL

20000623: Ca 10.4 mg/dL K 3.8 mmol/L P 4.4 mg/dL Mg 2.0 mg/dL

1998

0.3 0.6 0.6 0.6

13 13

890613 921124 930323 931101

Creatinine BUN (mg/dL)

5

Present illness: he visited the 中山hospital for further management of "renal stone".

He claimed he had normal thyroid and parathyroid function and the

stone analysis reported calcium oxalate.

• 20160720: Ca 9.7(mg/dL) Uca(24hrs 900ml) 18(mg/day)

P 3.9(mg/dL) Up(24hrs 900ml) 540(mg/day)

Cre 1.7(mg/dL) Ucre(24hrs 900ml) 100.8(mg/day)

Free T4 1.45(ng/dL) TSH 0.66(uIU/ml)

2005

1.2 1.2 1.4 1.4 1.6 2.3 1.8 1.7

1040212 1040528 1040716 1050225 1050816 1060107 1060208 1060720

Creatinine

Creatinine

51.2 25.8 16.9

940326 1050217 1060720

Intact PTH

Intact PTH

(mg/dL)

(pg/mL)

6

Present illness:

He was referred to another urologist at 郵政醫院 and

urethroscopy was done about twice per year.

2018

1.62 1.88 1.73 1.86 2.34 1.99 2.28

20.51

15

20

58.6

49.4

53.8

49.5

38

45.8

38.7

3.1

44.6

1070124 1070309 1070716 1070805 1070905 1080130 1080623 1081218

Creatinine BUN eGFR Intact PTH(mg/dL) (mg/dL) (mg/dL) (pg/mL)

7

Present illness:

His girlfriend found him nausea and vomiting with

normal appetite. But he denied progressive decreased

urine output.

20191204

He felt soreness over the bilateral lower back and he arranged the

GU OPD follow-up at 郵政醫院.

He also experienced dyspnea on exertion in recent half month and

condition became much worse before OPD visiting.

Additionally, he took the temperature and fever was noticed once

up to 38.5'C.

20191211

On visiting the GU OPD on 12/18, acute kidney injury with

creatininie up to 20 mg/dl and anemia (Hb dropped from 13 to 7.9

mg/dl) was noted. He was referred to our ED for help.

20191218

Past History

• Systemic disease: • Bilateral nephrocalcinosis post extracorporeal shock

wave lithotripsy since 6-month-old

• Hypertension for 1 year

• Operation history: • extracorporeal shock wave lithotripsy (now twice per

year) since 6-month-old

• No known allergies

• Medication: • denied recent NSAID use

Personal History

• Habit of cigarette smoking: denied

• Habit of alcoholic drinking: social drinking

• Social relationship: Well

• Psychologic status: normal

• Occupation: student

• Contact history: denied

• Cluster history: denied

• History of recent traveling: denied

• Full-term birth, normal weight

Review of Systems

• Positive findings:

Nausea(+),

Vomiting(+),

Fever(+),

Dyspnea on exertion(+),

Soreness over the bilateral lower back(+)

Conscious: alert

GCS: E4V5M6

Extremities:

No petechiae, no

ecchymosis, ROM

normal

Lung:

Regular breathing

pattern, no

wheezing, no

crackle, no rhonchi

Heart:

Regular heartbeat,

no murmur was noted

Abdomen: Impalpable liver and

spleen, no tenderness, no

rebounding pain,

normal bowel sound,

Vital sign:

BT: 36.7 ℃

HR: 81 b.p.m

RR: 20 /min

BP: 153 / 86 mmHg

Physical examinations

HEENT:

pale conjunctiva

2019.12.18

2019.12.18

20191218-CHEST, P-A VIEW

20191218-ABDOMEN C.T.

20191218-ABDOMEN C.T.

5.21:1

54

192

21.19%

1.99

The Lancet 2005 365, 417-430

DOI: (10.1016/S0140-6736(05)17831-3)

Tentative diagnosis

*. Urinary tract infection with sepsis

syndrome complicated with acute on

chronic kidney disease and uremia and high

anion gap metabolic acidosis

*. Bilateral nephrocalcinosis post annual

extracorporeal shock wave lithotripsy

*. Hypertensive cardiovascular disorder

Hospital course

21

12/18 22:16 Admitted to ED.

Lactated Ringer's B 500 ml as a source of water and

electrolytes and as an alkalinizing agent.

Admitted to NEP ward for for further management

12/19 Lactated Ringer's B 1000 ml as a source of water and

electrolytes and as an alkalinizing agent.

Rolikan 2.8 g in H/S 500 ml to prevent hyperchloremic

acidosis.

13:38

12/19 Consult INF for evulation of antibiotic for his UTI.

INF: Sintrix

H/S 1000ml(each bottle+Rolikan 2.8g total 5.6g)+

Sintrix 2000mg

Consult CVS for PERM catheter placement.

12/20

12/21 H/S 1000ml(each bottle+Rolikan 2.8g total 5.6g)+

Sintrix 2000mg

Hydralazine+Doxazosin for hypertension control.

On R'T PERM cath

Start hemodialysis

12/22 H/S 1000ml(each bottle+Rolikan 2.8g total 5.6g)+

Sintrix 2000mg

Hemodialysis

PRBC for relief of anemia.

12/24

12/25 H/S 1000ml(each bottle+Rolikan 2.8g total 5.6g)

Hemodialysis

Due to suspected systemic oxalosis, we consulted

OPH for exclusion of oxalate deposition. →excluded

12/26 H/S 1000ml(each bottle+Rolikan 2.8g total 5.6g)

Start regular hemodialysis (W2.4.6)

Due to suspected renal tubular acidosis, we

consulted ENT for exclusion of abnormal hearing.

→excluded

12/28

12/31

Regular hemodialysis (W2.4.6)

01/01

Hold regular hemodialysis (W2.4.6)

Nausea and vomiting

01/02 Regular hemodialysis

Consult RAD for renal biopsy.

Symptomatic treatment include: • Acetaminophen for fever and pain relief.

• Nexium for gastroesophageal reflux disease.

• Talex for relief of vomiting.

• Sevikar, Hydralazine, Doxazosin for hypertension control.

• Carvedilol for reduced mortality in patients with

congestive heart failure.

01/12

2019.12.19

2019.12.19

2019.12.19

2019.12.23

Na

K

Free Calcium

Magnesium

2019.12.19

2019.12.19

2019.12.23

2019.12.25

2019.12.26

Before HD

The Lancet 2005 365, 417-430

DOI: (10.1016/S0140-6736(05)17831-3)

Summary

• Full-term birth, normal weight

• Bilateral nephrocalcinosis post extracorporeal shock

wave lithotripsy since 6-month-old

• 2 years old: serum P 4.4(mg/dL) (Hypophosphatemia)

• 21 years old: CKD, HTN

Nephrocalcinosis

Hypercalcemia and

hypercalciuria Hyperphosphaturia

Hypercalciuria without

hypercalcemia Hyperoxaluria

Urinary excretion of oxalate

Genetic testing

Liver biopsy

Hyperphosphaturia

hyperphosphatemia tumor lysis syndrome

oral sodium phosphate

bowel preparations

kidney transplant

Inherited tubulopathies

Dent's disease

Low-molecular-weight proteinuria

At least one of the

following

Nephrocalcinosis

Nephrolithiasis

Hematuria

Hypophosphatemia

Chronic kidney disease

Lowe's syndrome

Dent's disease

Plus

renal tubular acidosis

congenital cataracts

mental retardation

X-linked hypophosphatemic

rickets

hyperphosphaturia but not

hypercalciuria

autosomal dominant and

autosomal recessive

hypophosphatemic rickets

hyperphosphaturia but not

hypercalciuria

Hypercalciuria without

hypercalcemia

Distal renal tubular acidosis

Metabolic acidosis

subsequent release of bone

calcium and phosphate

hypocitraturia

Medullary sponge kidney

Hypocitraturia

observed radiographically

Neonatal nephrocalcinosis

birth weight below 1500 g

prolonged administration of a

loop diuretic

loop diuretics Inherited

tubulopathies

Gene test

Chronic hypokalemia

primary aldosteronism

Liddle's syndrome

Beta thalassemia

Inherited tubulopathies

Bartter syndrome

Hypokalemia

metabolic alkalosis

Autosomal dominant

hypocalcemia

Normal or low serum calcium

Normal serum PTH

Recurrent nephrolithiasis

and nephrocalcinosis

Genetic testing

Hypomagnesemic hypercalciuric

nephrocalcinosis

Dent disease Lowe

syndrome

Differential diagnosis

• Hyperoxaluria(Primary hyperoxaluria) • Urinary excretion of oxalate

• Genetic testing

• Liver biopsy

• Dent's disease • Urine test

• Low-molecular-weight proteinuria

• Genetic testing

• Autosomal dominant hypocalcemia • Genetic testing

Thanks for attention