Hereditary diseases

Question 1

Lung and Kidney Involvement

c-ANCA (+)

Answer 1

Wegner’s granulomatosis

usually older adults

hemoptosis and hematuria.

p-ANCA is usually negative.

Question 2

Kidney problems + deafness

Answer 2

Alport syndrome

you’ll also see basement membrane splitting on biopsy

Question 3

episodic gross hematuria

Answer 3

IgA nephropathy

Question 4

Kidney and lung involvement

young male

+ p-ANCA

+ c-ANCA

Answer 4

Goodpasture Syndrome

Renal biopsy will show linear anti-glomeular basement membrane deposits

Treat with plasma exchange, corticosteroids, or other immunosuppressants

Question 5

What is the most commom form of inherited hypercoagulability?

Answer 5

The most common interited hypercoagulability is

Factor V Leiden mutations.

Patients present with thromboembolisms

Question 6

Prolonged PTT

normal PT

Autosomal dominant bleeding disorder

Answer 6

Von Willebrand’s disease

Von Willebrand factor prtects factor 8 (intrinsic pathway) from brakedown

Question 7

Port-wine stain

glaucoma

seizures

Answer 7

the triad of a port-wine stain, seizures, and glaucoma is associated with Sturge-Weber syndrome.

Sturge-Weber syndrome causes angiomas arising in the brain and meninges on the ipsilateral to the skin lesion.

Patients with this condition are at risk for developing mental retardation and hemiplegia. Treatment is symptomatic.

Question 8

Von Hippel-Lindau

Answer 8

Renal cell carcinoma is a malignant manifestation of a mutation in the VHL gene.

RCC is suspected with the classic triad of hematuria, flank pain, and palpable abdominal or flank mass.

Patients with VHL disease experience multiple benign and malignant tumors throughout their lifetime including hemangioblastpmas, retinal angiomas, pheochromocytomas, endolymph tumors of the ear, neuroendocrine tumors of the pancreas. Just think that VHL will make you lumpy everywhere.

Question 9

Samter’s disease

Answer 9

asprin intolerance

nasal polyps

asthma

AKA Aspirin-exacerbated respiratory disease (AERD)

clinical diagnosis can be made with the presence of the triad of symptoms and a definitive diagnosis is done with an oral aspirin challenge test.

Question 10

pedunculated, soft pink, skin-colored or violaceous papules

spots involve the axilla or inguinal area

appareance of Cafe au lait spots during infancy

Answer 10

Neurofibromatosis

NF type 2 is assocated with bilateral acoustic neuromas

Question 11

Gastrointestinal polyps with high malignant potential

(e.g. FAP) with extracolonic manifestations to include multiple cysts, fibromas, and osteomas

Answer 11

Gardner’s syndrome

Question 12

Hypopigmented patches

mental retardation

epilepsy

Answer 12

Tuberous sclerosis

the hypopigmented patches = ash leaf spots

Other skin findings include firm papules over the face and growths around the nails.

Question 13

bilateral proximal muscle aches and morning stiffness lasting over an hour.

Answer 13

Polymyalgia Rheumatica

usually seen in older white femals

associated with Giant Cell Arteritis

Question 14

What is CHARGE syndrome?

Answer 14

CHARGE syndrome is caused by mutations in the CHD7 chromosome. CHARGE stands for

Coloboma (defects in the iris), heart anomalies, choanal atresia, growth retardation, genital anomalies, and ear anomalies.

Patients can present in infancy with a hx of IUGR, difficulty feeding, facial clefting, dsmorphic features, and failure to thrive. Genital hypoplasia is one of the primary findings in this syndrome and happens in about 70% of males.

Question 15

epistaxis, telangiectasias, vissceral lesions

AND

a first-degree relative with the same symptoms

Answer 15

Hereditary hemorrhagic telangiectasia

Question 16

Clumsiness (Wide-based gait)

incomprehensible speech

(+) babinski sign

no DTRs

Answer 16

Friedreich ataxia

Friedreich ataxia is the most common autosomal recessive ataxia resulting from a mutation on chromosome 9.

The most common cardiac abnormality in patients with FA is hypertrophic obstructive cardiomyopathy (remember, this murmur will increase in intensity with the Valsalva maneuver)