PFM Clinical Cases Week 2 Flashcards
somatic disease (not heritable) due to mutation in GNAS leading to increased cAMP production
McCune Albright
2 autosomal recessive diseases due to mutation in DNA repair
Ataxia Telangectasia (A-T)
Fanconi Anemia
X-linked recessive syndrome due to deficiency of HPRT enzyme
Lesch-Nyhan Syndrome
X-linked dominant syndrome due to mutation of FMR1 gene b/c of CGG repeats
Fragile X Syndrome
key clinical features of this disease include the triad of features:
1. Fibrous Dysplasia
2. Cafe-au-lait spots
3. early puberty
McCune Albright Syndrome
presents with bone pain, limp, and triad of features, hyperthyroidism, scoliosis, fractures, macrocephaly, and vision and hearing loss
McCune Albright Syndrome
diagnose this disease by triad of features, Shepherd’s Crook, and biopsy bone
NO genetic testing
McCune Albright Syndrome
supportive care, stabilization of joints and manage sx’s is the treatment for this syndrome
McCune Albright Syndrome
key clinical features include:
cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency and thymic hypoplasia
Ataxia Telangiectasia (A-T)
this disease has a specific mutation in ATM gene
Ataxia Telangiectasia (A-T)
key history and presentation of ataxia, gait, impaired hand coordination, telangiectasia, loss of reflexes, failure to thrive, premature aging
A-T
diagnose this disease with the clinical features but labs as well: lymphonpenia (lowered white blood cell count) and deficiency in IgA
can confirm with ATM testing
A-T
treatment/therapy for this disease includes:
supportive therapy, immune function and pulmonary function testing, monitor for cancers
A-T
main clinical features for this disease includes:
blood production problems and bone marrow failure
petechiea and bruises
pallor
fatigue
infections
Fanconi Anemia
physical exam includes:
short stature
cafe-au-lait
thumb/wrist abnormalities
microcephaly
Fanconi Anemia
