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sys_disII
System based disorders II
| Term | Definition |
|---|---|
| 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 V | IFITM5 (AD) |
| OI VI | SERPINF1 (AR) |
| OI VII | CRTAP (AR) |
| OI VIII | Fx, no dentinogenesis or HL; short limb dwarfism, gracile long bones |
| OI VIII | LEPRE1 (AR) |
| OI IX | Fx, white to gray sclerae, short limb dwarfism, bowed limbs |
| OI IX | PPIB (AR) |
| 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 |
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