Transcript Snímek 1

Case report
Zuzana Humlova
Department of Pathophysiology
History
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1970 - hypertension related to fibromuscular
dysplasia of the right renal artery; saphenousvein bypass graft had failed, resulting in a poorly
functioning right kidney
 1976 - developed angina pectoris
 1981 - diabetes mellitus was discovered,
successfully managed with insulin therapy
 1995 - urea nitrogen level 12 mmol/l, creatinine
114.9 umol/l
 1997
- coronary artery bypass grafting,
cardiac ultrasonographic examination
performed slight widening of the left
ventricular outflow tract, with Doppler
evidence of mitral regurgitation
 1998 - bilateral carpal tunnel syndrome
developed, and the patient began to have
nocturnal „burning pain“ in her feet, with
loss of vibratory sensation
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1 month later, proteinuria developed, increasing
peripheral edema, diuretic medication caused
frequent orthostatic hypotension and syncope
1999 - intermittent constipation and diarrhea
develop, with normal findings on stool
examinations
- the splenic tip was palpated 4 cm below
the left costal margin
- a ventricular-demand, dual chamber
electronic pacemaker was implanted because of
syncope associated with complete
atrioventricular block
2000 – intermittent claudication, voice became
weaker, with hoarseness and a nonproductive
cough
First admission
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patient was admitted to the hospital
because of increasingly frequent episodes
of syncope, her blood pressure in the
upright position was as low as 60/40 mm
Hg, and a new grade 2 systolic murmur
was heard. There were peripheral edema.
Laboratory- I. admission
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urea (mmol/l)
creatinine (umol/l)
protein (g/l)
albumin (g/l)
TSH (μU/ml)
T4 (nmol/l)
Iron
Iron-binding capacity (μmol/l)
14.63
353.6
52
12
14.3
68.21
3.1
25
Urine: specimen of urine 24 h: 9,57 g of protein, 0,462 g
of creatinine
Cardiac ultrasonographic
examination
 left
ventricle - marked concentric
hypertrophy; estimated ejection fraction,
65 %; mitral valve - calcification of the
annulus, papillary-muscle displacement;
aortic valve – cusp thickening; without
stenosis; right ventricle – wall thickening;
estimated systolic pressure 42 mm Hg;
Doppler study – moderate mitral
regurgitation, mild aortic, tricuspid, and
pulmonary regurgitation.
Second admission:
6
weeks after discharge, the patient was
readmitted. Her edema began increase,
with worsening dyspnea and more
frequent anginal attacks. TT 37,1 C, BP
110/50, P 68, grade 3 systolic murmer
over precordium and at the apex. The
spleen was palpated 9 cm below the
costal margin. Peripheral edema, vibratory
sensation was impaired
Laboratory – II. admission
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urea (mmol/l)
creatinine (umol/l)
protein (g/l)
albumin (g/l)
calcium (mmol/l)
phosphorus (mmol/l)
glucose (mmol/l)
Sodium (mmol/l)
Potassium (mmol/l)
Chloride (mmol/l)
12.675
380
51
13
1.95
N
5.66
142
2.8
101
Hematologic findings
 Hematocrit
 MCV
 White-cell
count (per mm3)
 Platelet count (per mm3)
26.3
88
9.000
505.000
ECG
 normal
rhythm P 76/min, first-degree AV
block (208 msec), and a pattern indicative
of an old anterior myocardial infarction,
with nonspecific ST-segment and T-wave
abnormalities and very low voltage in
extremity leads.
Radiograph of the chest
showed slight cardiac enlargement and a
moderate increase in bilateral pleural
effusions. The leads of a dual-chamber
electronic pacemaker appeared intact.
Abdominal radiograph
showed moderate splenomegaly and
calcifications in the splenic and common iliac
arteries.
SUMMARY OF EXAMINATIONS:
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nephrotic syndrome
heart failure (restrictive cardiomyopathy according to
clinical findings, ECG, Doppler +US)
bilateral sensory neuropathy
bilateral carpal tunnel syndrome
hoarseness
hypothyroidism
splenomegaly
normocytic anemia
thrombocytosis
diabetes mellitus
orthostatic hypotension
intermittent constipation and diarrhea
1. TASK
 What
is the origin of peripheral edema?
When can we find the nephrotic syndrome
(NS)?
 primary retention of Na and water,
hypoproteinemia, heart failure
 FSGN, MN, MZ, diabetic nephrosclerosis,
SLE, amyloidosis
2. TASK
 What
is typical for the NS? What are the
complications of NS?
 infection, thromboembolic disease,
changes in lipids metabolism, protein
malnutrition
3. TASK
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Restrictive cardiomyopathy was considered as a
diagnosis. What can cause this disease?
 Myocardial (noninfiltrative disorders-idiopathic
disease, familial, hypertrophy, scleroderma, DM,
pseduxanthoma elasticum, infiltrative disordersamyloidosis, sarcoidosis, m. Gaucher, m. Hurler,
fatty infiltration, storage disordershemochromatosis, m. Fabry, glycogen storage
disease)
 Endomyocardial (fibrosis, hypereosinophilic sy,
carcinoid, metastatic cancer, exposure to
radiation, toxins, anthracycline, serotonin,
busulfan, mercurial agents)
4. TASK
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Why had she angina pectoris? What is
the source of rhythm abnormalities?
5. TASK
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What is the main cause of peripheral
sensoric neuropathy?
6. TASK
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Why had she an orthostatic
hypotension? Is there any convince with
intestine dyscomfort?
7. TASK
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How to explain splenomegaly and
thrombocytosis together?
What
type of systemic disease
can be considered as a final
diagnose?
AMYLOIDOSIS
 systemic
 topic
 senile
 14
different proteins-SAA, monoclonal
lambda or kappa Ig light chains, mutant
transthyretin,cystatin, ANP
 AL
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(primary amyloidosis)
monoclonal lambda or kappa Ig light chains
produced by a clonal plasma-cell dyscrasis
 ATTR
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(familial)
mutant transthyretin
 AA (secondary)
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amyloid A protein produce in response to a
chronic inflammatoy state
Anatomical diagnosis:
 Systemic
amyloidosis, AL type (serum
protein electrophoresis showed IgG
lambda M components), with restrictive
cardiomyopathy and involvement of the
kidney, spleen, larynx, blood vessels, and
peripheral nerves.
Macroglossia
hoarsenes
Heart failure
Carpal tunnel sy
Autonomic nervous
system involvement
Peripheral nervous
system involvement
Thrombocytosis
AL AMYLOID
Anemia
Splenomegaly
Hypofunction
Hepatomegaly
of adrenal glands
hypothyreosis
Nephrotic syndrome