Amyloidosis in. Vahidshahi. amyloidosis.pdf•Renal failure with little or no proteinuria: -primary deposition of amyloid fibrils to blood vessels or tubules. •Tubular dysfunction

Amyloidosis in PEDIATRICS

Kourosh Vahidshahi (MD)

Pediatric Cardiologist

Associate ProfessorShahid Beheshti University of Medical Sciences

July. 2021

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis: C0ngo-red stain

Amyloidosis

Amyloidosis


Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis


• Amyloidosis is rare in children.

• Primary: genetic syndrome

- Peripheral nervous system and the heart.

• Secondary :juvenile rheumatoid arthritis, chronic infections, familial Mediterranean fever and malignancy.

• The most common : reactive AA amyloidosis due to chronic inflammatory diseases


• Kidney

• Heart

• GI

• Neuropathy

• Hematologic

• Skin

• …


Kidney

• Asymptomatic proteinuria

• the most common initial presentation

• Urinalysis routinely :risk of secondary amyloidosis.

• Gradually progressing to nephrotic syndrome

and/or renal dysfunction


Kidney

• In the series reported by the Turkish FMF study : 32% proteinuria, 40% nephrotic syndrome, and 28% chronic renal failure .

• Hematuria and hypertension almost never occurs

• 10–30% of patients with renal amyloidosis might have only mild proteinuria and normal renal function


Kidney

• Renal failure with little or no proteinuria:

- primary deposition of amyloid fibrils to blood

vessels or tubules.

• Tubular dysfunction such as type 1 (distal) renal

tubular acidosis, nephrogenic diabetes insipidus

related polyuria, and acquired Fanconi syndrome


GI

• dyspepsia, abdominal pain, nausea, diarrhea, gastrointestinal bleeding, malabsorption, constipation, and obstruction.

• Acute gastrointestinal system symptoms may resemble FMF attacks.

• Hepatomegaly and splenomegaly .

• Serum liver enzymes can elevate

• Splenomegaly can cause hypersplenism and rarely splenic rupture


Hematopoietic system

• Bone marrow

• bleeding diathesis due to factor X deficiency, liver

disease, or infiltration of blood vessels .

• Thrombotic events due to underlying disease,

nephrotic syndrome


• Nervous system

• Mixed sensory and motor peripheral neuropathy and autonomic neuropathy

• Rare in the secondary forms.

• Hereditary amyloidoses : familial amyloidoticpolyneuropathy

• Central nervous system involvement is unusual.


Attempts to treat amyloidosis by:

-immunosuppression

-steroids

-fat elimination diets

• have been unsuccessful.

• Kidney transplants

• recurrence has been reported.


• Colchicine : great success for the prevention of the 'attacks' of FMF.

• inhibit the development of casein induced amyloidosis in mice.

• Perhaps, the onset of amyloidosis will be prevented or delayed in patients with FMF treated with colchicine


The HEART


• Cardiac amyloidosis results in a restrictive

cardiomyopathy

• Extracellular deposition of proteins in the

myocardium.

Amyloidosis in PEDIATRICS: The HEART

• Heart Systolic or diastolic dysfunction, and

arrhythmia are the main presenting features

of heart involvement.

• Cardiac involvement is more rare in AA

amyloidosis compared to AL amyloidosis and

may progress rapidly


Restrictive

Cardiomyopathy


Restrictive Cardiomyopathy

Clinical Manifestation

• Left sided backward :pulmonary congestion

- Exertional dyspnea / intolerance

- Recurrent Pneumonia

- Chronic cough

• Left sided forward:

-syncope, Angina,..

- Arrhythmia

• Right sided backward : Edema, Hepatomegaly,…








Kourosh Vahidshahi (MD)

Pediatric Cardiologist

Associate ProfessorShahid Beheshti University of Medical Sciences

July. 2021

Documents

Amyloidosis in. Vahidshahi. amyloidosis.pdf•Renal failure with little or no proteinuria: -primary deposition of amyloid fibrils to blood vessels or tubules. •Tubular dysfunction