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System based disorders II

Cystic Fibrosis respiratory, exocrine pancreas, intestesting, vas deferens, hepatobiliary and sweat glands
Cystic fibrosis 15-20% neonates meconium ileus >95% males infertile
Cystic fibrosis dx: sweat Cl>60 mEq/L OR CFTR disease causing mutations
Cystic fibrosis deltaF508 (0.7 of ~1500 alleles)
Cystic fibrosis antibiotics, bronchodilators, mucolytic (pulmonzyme, mucomyst), chest PT; avoid smoking, resp viruses and dehydration
Cystic fibrosis mutation specific therapy (G551D) using Ivacaftor/Kalydeco
Heritable Pulmonary Arterial Hypertension (HPAH) dyspnea 60%, fatigue 19%, chest pain 7%, edema 3%; PA pressure <25 mmHg (rest)/ >30 (exercise) and other causes exclueded; increased PA pressure causes right heart failure and death within 3 yrs of dx
Heritable Pulmonary Arterial Hypertension (HPAH) ~6% of cases familial: AD w/ 10% pen, variable age onset and ?anticipation; 2.4 females/males; BMPR2 and ACVRL1, BMPR1B, CAV1,, ENG and SMAD8 rare
Heritable Pulmonary Arterial Hypertenstion treatment; sc/iv treprostinil,; po Bosentant, sildenafil; neb Iloprost and IV epoprostenol
Idiopathic Pulmonary Fibrosis (IPF) Bibasilar reticular anomalies/nodules on high res CT, abnl lung func (VC), usually 50-70 yrs; +/- lung Ca; 30-50% 5 yr survival
Idiopathic Pulmonary Fibrosis (IPF) TERT and TERC (short telomeres) or SFTPC in 8-15% multiplex or 3% simplex; all AD reduced penetrance;
Pulmonary Fibrosis occurs in Hermansky Pudlak (AR), Dyskeratosis Congenita (AD, AR, XL)
Idiopathic Pulmonary Fibrosis treatment: supp O2, lung transplant, no smoking
Adenosine Deaminase Def SCID with FTT, opportunistic infections, marked lymphocytopenia, absent humoral and cellular, usually Dx <6/12
Adenosine Deaminase Def <1% ADA activity (purine metabolism) or 2 known ADA causing muts (AR)
Adenosine Deaminase Def antibiotic, antifungual, IV immunoglobulin (IVIg), Pneumocystis prophylaxis, bone marrow/stem cell transplant; PED ADA ERT
Common Variable Immune Def (CVID) humoral immune def after 24/12 (often young adults), sinopulmonary (Strep, H flu, Kleb pn), meningitis after bacterial infections, chronic diarrhea, malabsorption, +/- lymphoid hyperplasia, autoimmune, lymphomas
Common Variable Immune Def (CVID) IgG < 100 mg/dL to low, poor response to Pneumovax
Common Variable Immune Def (CVID) loss RAC1, CD19, BAFFER protein; TNFRSF13B (TAC1)10-15%, ICOS (<1%), muts (AD, AR)
Common Variable Immune Def (CVID) rx: immune globulin (IVIg), antibiotics, monitor lymphoma, thyroid function
AD Hyper IgE syndrome boils, cysts forming pneumonia and very high IgE; characteristic face, Chiari malform, +/- eczema, candiasis, osteopenia, fractures, scoliosis, arterial tortuosity and aneurysms
AD Hyper IgE syndrome IgE >2000 IU/mL (~15X) STAT3 gene (AD)
AD Hyper IgE syndrome rx: antibiotics to prevent Staph absecess/pn
X linked hyper IgM syndrome 50% onset by 1 yr, >90% by 4yr; recurrent respiratory bacterial, recurrent diarrhea w/ FTT; neutro & thrombopenia, anemia; 10-15% CNS infections; liver, GI, pancreatic tumors; lymphoma (Hodgkins) and EBV
X linked hyper IgM syndrome CD40LG (aka TNFSF5/CD154) muts in 95% of affected males (XL)
X linked hyper IgM syndrome allogenic hematopoietic cell transplantation, recombinant granulocyte stim factor (G-CSF) for neutopenia, antibiotics
IPEX syndrome Immune dysregulation, Polyendocrinopathy, Enteropathy; watery diarrhea, eczema, diabetes, autoimmune thyroid, anemia, low polys and plts, tubular neuropathy
IPEX syndrome FOXP3 muts in ~25% affected males (XL)
IPEX syndrome rx: immunosuppression, steriods, granulocyte stim factor, bone marrow transplant
XL SCID severe combined cellular and humoral immunodef, present 1-3/12 w FTT, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent and presistent infections
XL SCID NBS in 10 states, IL2RG muts found in >99% of affected males (XL)
XL SCID rx: antibiotics (esp pneumocystis, IVIg, bone marrow transplant ASAP, gene therapy?
AR SCID SCID presents in 1st yr, recurrent bacterial, viral, and opportunistic infections, diarrhea, oral moniliasis, FTT, Pneumocystis, usually die by 2 yrs unless stem cell transplant
AR SCID due to abnl T cell receptor signaling; low CD3,4,8 T cells; ZAP70 muts (AR)
AR SCID IVIg, antibacterial,-fungal, -protozoal, allogenic HSCT within 3/12; avoid live viral vaccines
GATA1 related XL cytopenia thrombocytopenia +/- anemia w 1 or more of the following: plt dysfx, mild beta thal, neutropenia and congen erythropoietic porphyris in males
GATA1 related XL cytopenia rx: plt or rbc transfusions, avoid ASA, NSAIDs
Hemophilia A prolonged oozing after trauma, tooth extractions or surgery, age at dx relates to F8 activity, sever joint/deep muscle bleeds <2 yrs, 10% carriers bleed
Hemophilia A Low F8 clotting activity with nl von Willebrand factor level; F8 muts in 98% of affected males (XL), IVS 22 inversion in 48% severe cases and dels/dups in 6%
Hemophilia A hemophilia center, IV F8, DDAVP, avoid ASA, IM injections, impact sports and activities, and always rx before circumcision
Hemophilia B prolonged oozing after trauma, tooth extractions or surgery, age at dx relates to F9 activity, severe joint/deep muscle bleeds <2yrs, 10% carriers bleed
Hemophilia B low F9 clotting activity; F9 mut in 100% of affected males (XL), dels/dups 3%
Hemophilia B rx; hemophilia center, IV F9, avoid ASA, IM injections, impact sports and activities; always rx before circumcision
Sickle Cell Disease intermittent vaso-oclusive events and hemolytic anemia, dactylitis, splenic infarction and asplenia, cholelithiasis, PAH, leg ulcers
Sickle cell Disease HBB muts B(s) Glu6Val, B(c), B(punjab), B(arab) - all AR; SS and SC <3.6% and Sb(thal) >3.6% Hb A2
Sickle Cell Disease rx: hydration, transfusion, penicillin, hydroxyurea, rx PAH phosphodiesterase inhibs/nitric oxide
Alpha Thalessemia significant Hb Bart hydrops fetalis (Hb Bard Syn) and HbH disease w 90% vs 5% Hb Bart
Alpha Thalessemia Hb Bart syn, HbH, alpha thal trait, silent carrier and nl have deletion of 4,3,2,1,1 alpha globin genes; dels 90% and point 10% of mut, alpha thal moderates SS
Alpha Thalessemia rx: Hb Bart syn fatal, HbH transfuse prn; avoid excess FE rx and sulphonamides in HbH
Hb Bart syndrome 4 null alpha genes
HbH 3 null alpha genes
alpha thal trait 2 null alpha genes (in cis or trans)
silent carrier 1 null alpha gene
Beta Thalessemia reduced beta globin causes microcytic hypochromic anemia and dec HbA; Bthal major > severe anemia and hepatosplenomegaly <2 yrs, marrow expansion
Beta Thalessemia RBC indices, dec Hb A2 and inc Hb F >12 months; nucleated RBCs
Beta Thalessemia rx; regular transfusion, Fe chelation, bone marrow transplant, splenectomy?; monitor endo function; avoid EtOH & iron meds
Thiamine Responsive Megaloblastic Anemia triad of megaloblastic anemia, SNHL and DM; +/- optic atrophy, CHD, arrythmias, strokes
Thiamine Responsive Megaloblastic Anemia SLC19A2 muts in 100% (AR)
Thiamine Responsive Megaloblastic Anemia rx: anemia corrected by high dose Thiamine (B1), RBC remain macrocytic and SNHL irreversible
XL Adrenal Hypoplasia Congenita (AHC) acute adrenal insufficiency by 3 wks in ~60%; vomiting, hypoglycemia and salt wasting with hyper kalemia; +/- cryptochidism
XL Adrenal Hypoplasia Congenita (AHC) NROB1 (DAX1) dels in 100% with glycerol kinase def +/- DMD; but point muts in nearly all isolated AHC
XL Adrenal Hypoplasia Congenita (AHC) rx: IV glucose, NaCl; glucocorticoids, mineralocorticoids and NaCl
Antley Bixler (cyto p450 oxidooreductase def) steroidogenic defect ranging from cortisol deficiency to Antly Bixler syndrome with ambiguous genitalia, craniosynostosis, choanal atresia,radiohumeral synostosis
Antley Bixler (cyto p450 oxidooreductase def) sterol/steriod abnormalities, POR muts (AR)
Antley Bixler (cyto p450 oxidooreductase def) rx: tracheostomy, cortisol, surgery for craniosynostosis and hypospadias
Congenital Adrenal Hyperplasia >90% CYP21OHD, impaired cortisol synthesis by adrenal cortex, simple virilizing (25%) and salt wasting (low cortisol and inadequate aldosterone) (75%), NBS of neonates lowers risk for initial fatal salt wasting crisis
Congenital Adrenal Hyperplasia CYP21A2 panel of 9 seq or del/dups detect 80-98% (AR)
Congenital Adrenal Hyperplasia rx: glucocorticoid (increase w stress), salt wasting add mineralocorticoid and NaCl
Congenital Adrenal Hyperplasia ACTH causes adrenal hyperplasia and overproduction og 17OHP and hormones
Familial Hyperinsulinism Hypoglycemia (ranges from severe neonatal to mild childhood onset)
Familial Hyperinsulinism ~45% ABCC8 and 5% KCNJ11 (AR), ~5% GLUD1 and 5% HNF4A (AD w anticipation)
Familial Hyperinsulinism rx: IV glucose, diazoxide, etc, diet, pancreatic resection, avoid fasting
Isolated Gonadotropin Releasing Hormone (GnRH) Def low LH and FSH w hypogonadism, +/- micropenis/cryptochidism, small testes, absent puberty, 60% anosmia (aka Kallmann), bimanual synkinesis
Isolated Gonadtropin Releasing Hormone (GnRH) def FGFR1, PROKR2, PROK2, CHD7, FGF8 muts ~25% (AD), KAL1 ~10% (XL) muts/del
Isolated Gonadtropin Releasing Hormone (GnRH) deff Testosterone, hCG in males and estrogen, progestins in females
PROP1 related combined pituitary hormone def combined pituatary hormone def (CPHD) w GH, TSH, LH, FSH, and PrL +/- ACTH deficiencies, short stature, FTT in childhood
PROP1 related combined pituatary hormone def PROP1 muts >98% (AR)
PROP1 related combined pituatary hormone def rx: GH, L thyroxine, +/- testosterone or estrogens, +/- hyrocortisone
Achondoplasia and Hypochondroplasia Rhizomelic short stature, macrocephaly/inc ICP; kyphosis, lordosis, narrowing interpedicular distance, trident hand, genu varum, cranio-cervial compression and spinal stenosis
Achondroplasia and Hypochondroplasia dx: signs and x-rays; FGFR3: Achondroplasia 98% G>A transition due to CpG results in Gly380Arg; Hypochondroplasia Asn650Lys C>A and 21% C>G
Achondroplasia and Hypochondroplasia rx: cns shunt for ICP, sleep and cc apnea; otitis; orthopedics for gibbus, genu varum and spinal stenosis
Osteogenesis Imperfecta Fx fater min trauma, +/- dentinogenesis imperfect (gray/brown) and HL (adults
OI type 1 non-deforming with blue sclerae
OI type 2 perinatal lethal
OI type 3 progressively deforming
OI type 4 variable OI with nl sclerae
Osteogenesis imperfecta dx: FHx (fx/signs), X rays (fx, wormian, codfish vertebrae and oseopenia); COL1A1/2 molecular test and/or biochemical analysis of type 1 collagen
COL1A1/2 ratio 2:1
Osteogenesis Imperfecta Molecular testing COL1A/2 detects 90% of OI types 1-4 (AD, >95% seq changes and 2% del/dup); biochemical detects 90,98,84,84% of OI types 1-4
Ostoeogenesis imperfecta rx: orthopedic and otolaryngology management, periodic dental and hearing eval; bisphosphonates, oral alendronate or risedronate and GH may reduce fx, increase bone density and improve growth
OI V-VII Fx, no dentinogenesis (D) or hearing loss; abnl vertebrae and hyperplastic callous
OI VIII Fx, no dentinogenesis or HL; short limb dwarfism, gracile long bones
OI IX Fx, white to gray sclerae, short limb dwarfism, bowed limbs
Type II Collagenopathies Achondrogenesis 2; Kniest, SED, Stickler
Achondrogenesis Type 2 (Langer Saldino) micromelic dwarfism, CP, short ribs and abnl vert; stillborn/neonatal death; COL2A1 (AD)
Kniest short stature and trunk (platysopondyly); hearing loss; myopia and retinal detach (MRD and cataract; COL2A1 (AD)
Spondyloepiphyseal Dysplasia (SEDC) flat face/CP, MRD, abnl vert, cervical myelopathy; COL2A1 (AD)
Stickler flat face, MRD and cataract, HL, CP +/- Robin; COL2A1 (85%) and COL11A1 (10-15%)
Diastrophic dysplasia short limbs, nl skull, hitchhikers thumbs, spine (scoliosis, lordosis, kyphosis), joint contractures and osteoarthritis, CP 1/3, cystic ears 2/3, club feet
Diastrophic dysplasia clinical and radiologic confirmed by SLC26A2 >90% have seq variants
Diastrophic dysplasia rx: PT, casting, ortho surgery with caution as deformities tend to recur, watch C spine for cord compression
Ehlers Danlos 5 types: 1.classic (i and ii) 2. hypermobility (III) 3.kyphoscoliotic (vi) 4. vascular(iv)
Classic EDS (i and ii) skin hyperextensible, abnl wound healing and joint hypermobility
Hypermobility EDS (iii) soft skin, dislocation, pain +/- aortic dilation
Kyphoscoliotic EDS (vi) friable, hyperextensible skin; scars, bruising, hypotonia, progressive scoliosis and fragile sclerea
Vascular EDS (iv) thin, translucent skin; bruising, vascular rupture (12% death secondary to arterial or uterine rupture in pregnancy); GI perforation
Classic EDS (i and ii) ~50% have COL5A1/2 seq, del/dup (AD)
Hypermobility EDS (iii) TNXB haploinsufficiency; very rare (AD)
Kyphoscoliotic EDS (vi) increase deoxypyrimidine/pyrimidine ration in urine (HPLC) due to def lysyl hydroxylase (PLOD1) activity (fibroblast); PLOD1 seq?; del/dups ~18% (AR)
Vascular EDS (iv) COL3A1 seq >95%, del/dup 2% (AD)
Classic EDS (i and ii) rx: care with sutures, ascorbic acid? avoid ASA and contact sports
Hypermobility EDS (iii) rx: watch aorta and avoid cs/joint hyperextension
Kyphoscoliotic EDS (vi) rx: ortho, opthal, pregnancy risk and avoid cs
Vascular EDS (iv) avoid contact sports and arteriography
Marfan syndrome ocular (myopia, ectopia lentis); skeletal (dolichosternomelia, pectus, scoliosis); aoritc dilation/tear/rupture/MV prolapse
Marfan syndrome dx: FHx, exam (esp ectopia lentis and aneurysm); FBN1 seq 70-93%, dels/dups? (AD), 25% de novo
Marfan syndrome rx: lens surgery, beta blockers/losartan for aortic dilation, surgery 5 cm or if 1 cm/yr; yearly opthal & ECHO; avoid contact sports, isometric; CV stimulants and LASIK; inc CV risk with pregnancy
Loeys Dietz syndrome vascular (CNS, thoracic and abdominal arterial aneurysms/dissections) and skeletal (pectus excav/carin, scoliosis, lax joints, arachnodactyly and clubfeet).
LDS type I 75% hypertelorism, bifid uvula/CP and craniosynostosis
LDS type II 25% velvety/translucent skin; atrophic scars
Loeys Dietz TGFBR1/2 in 95% (AD), 3/4 de novo
Leoys Dietz rx: aortic dissection at smaller diameters than MFS, beta blockers, C spine instability, avoid contact sports and CV stimulants
Multiple Epiphyseal Dysplasia joint pain (hips and knees), malformations (hands, feet and knees) and scoliosis; 50% had clubfoot, clinodactyly or CP at birth; adult Ht 150-180 cm
Multiple Epiphyseal Dysplasia dx: clin and x-ray; SLC26A2 seq variants in ~100% (AR)
Multiple Epiphyseal Dysplasia rx: orthopedic, avoid sports involving joint overload and caution with NSAIDs
Pseudoxanthoma Elasticum affects elastic tissue skin, eye, CV and GI systems; skin (papules); retina (streaks and hemorrhage); GI bleeds, angina/claudication
Pseudoxanthoma Elasticum dx: skin and eye findings and skin biopsy; ABCC6 seq ~90% both alleles w dels in 5-30% (AR)
Pseudoxanthoma Elasticum rx: intraocular injections for macular degeneration; avoid contact sports, ASA, NSAIDs, retinal exams in pregnancy
Branchiootorenal Spectrum Disorders ear pits, tags, anomalies causing deafness >90%; branchial fistulae/cysts and renal hypoplasia, dysplasia or agenesis
Branchiootic Syn (BOS) BOR w/out renal anomalies
Branchiootorenal disorders EYA1, SIX5, SIX1 seq, dups/dels in 40% (AD) with 10% de novo
Branchiootorenal disorders rx: excision fistulae/cysts, ear surgery, aids, cochlear implants
Lowe syndrome eyes: cataracts, glaucoma and poor vision; CNS: hypotonia, absent DTRs and 75-90% mild to severe delay; Renal: Fanconi, RTA, renal
Lowe syndrome OCRL seq variant in 95% affected males and carriers (XL); enzyme in fibroblasts
Lowe syndrome rx: remove cataracts, GERD; oral Na/KHCO3, PO4 and calcitriol; avoid contact lens
Polycystic kidney disease (AD) late onset, bilateral renal cysts; liver and pancreatic cysts; CNS/aortic aneurysms and MVP; renal pain, hypertension, renal failure by 60 yrs
Polycystic kidney disease (AD) dx: renal imaging; 85% PKD1 and 15% PKD2 most seq but few del/dups (AD); contiguous PKD1 and TSC2 del > PKD in utero and Tuberous Sclerosis; rare early onset PKD with neg FHx due to hypo morph PKD1 in trans
Polycystic kidney disease (AD) rx: hypertension, pain, cyst decompression, nephrolithiasis, clip small and aortic replacement for large aneurysms; avoid nephrotoxic, caffeine and smoking
Polycystic kidney disease (AR) neonates with enlarged echogenic kidneys: ~45% hepatomegaly, dilated bile ducts and echogenicity; pulmonary hypoplasia w 30% dying by 1 yr of resp insuff and >50% have renal failure in first decade
Polycystic kidney disease (AR) dx: clin findings in absence of renal cysts in parents; ~80% PKHD1 seq variants, dups/dels seen
Polycystic kidney disease (AR) rx: resp failure, hypertension, avoid NSAIDS, aminoglycosides and caffeine
UMOD associated kidney disease hyperuricemia and goat from dec renal excretion uric acid; increase creatinine 5-40 yrs and renal failure >40 yrs; isosthenuria may exacerbate bouts of dehydration
UMOD associated kidney disease UMOD (aka uromodulin/Tamm Horsfall protein) seq variants in >95% (AD)
UMOD associated kidney disease rx: allopurinol/probenecid for gout; nepherology management, peritoneal dialysis, renal transplant; avoid nephrotoxic meds, dehydration and meats
Created by: amrs
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