diseases of infancy and childhood
DESCRIPTION
Diseases of Infancy and Childhood. Congenital Anomalies. Causes of death by age groups – Table 10-1 Definitions Causes of anomalies Pathogenesis of anomalies. Congenital Anomalies. Definitions: Malformation – intrinsically abnormal developmental process - PowerPoint PPT PresentationTRANSCRIPT
![Page 1: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/1.jpg)
Diseases of Infancy and Childhood
![Page 2: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/2.jpg)
Congenital Anomalies
• Causes of death by age groups – Table 10-1• Definitions• Causes of anomalies• Pathogenesis of anomalies
![Page 3: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/3.jpg)
Congenital Anomalies
• Definitions:– Malformation – intrinsically abnormal developmental
process– Disruption – extrinsic disturbance in morphogenesis,
secondary destruction of a previously normal organ or region– Deformation – abnormal biomechanical force leading to a
structural abnormality– Sequence – cascade of anomalies triggered by one initiating
aberrration– Syndrome – constellation of anomalies, usually a single
etiologic agent that simultaneously affects several tissues
![Page 4: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/4.jpg)
Congenital Anomalies
• Causes:– Genetic– Environmental – infections, maternal disease
states, drugs and other chemicals, irradiations– Multifactorial– Unknown – 40-60%– Table 10-3
![Page 5: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/5.jpg)
Congenital Anomalies
• Pathogenesis – The timing of the prenatal teratogenic insult has an
important impact on the occurrence and the type of anomaly produced
– The complex interplay between environmental teratogens and intrinsic genetic defects is underscored by the fact that features of dysmorphogenesis caused by environmental insults can often be recapitulated by genetic defects in the pathways targeted by these teratogens
![Page 6: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/6.jpg)
Disorders of Prematurity
• Causes of prematurity and fetal growth restriction
• Neonatal respiratory distress syndrome• Necrotizing enterocolitis
![Page 7: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/7.jpg)
Disorders of Prematurity
• Appropriate for gestational age – 10th-90th percentile
• Small for gestational age - <10th percentile• Large for gestational age - > 90th percentile• Pre-term – before 37 weeks• Post-term – after 42 weeks
![Page 8: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/8.jpg)
Disorders of Prematurity
• Causes of prematurity and growth restriction– Preterm premature rupture of membranes– Intrauterine infection– Uterine, cervical, and placental structural
abnormalities– Multiple gestation– Fetal conditions– Placental insufficiency– Maternal conditions
![Page 9: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/9.jpg)
Disorders of Prematurity
• Hyaline membrane disease (neonatal RDS)• Necrotizing enterocolitis• Sepsis• Intraventricular hemorrhage• Patent ductus arteriosus• Long-term complications
![Page 10: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/10.jpg)
Disorders of Prematurity
• Neonatal RDS– Immaturity of the lungs is the most important
substrate upon which this condition develops– The fundamental defect in RDS is the deficiency of
pulmonary surfactant– Role of glucocorticoids is particularly important– Figure 10-7- Pathophysiology of RDS– Retinopathy of prematurity– Bronchopulmonary dysplasia
![Page 11: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/11.jpg)
Perinatal Infections
• Transcervical ( Ascending) infections – most bacterial and a few viral ( herpes simplex)
• Transplacental (Hematologic) infections – most parasitic and viral and a few bacterial, TORCH
• Sepsis – Group B streptococcus
![Page 12: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/12.jpg)
Fetal Hydrops
• Immune hydrops –– Blood group incompatibility between mother and fetus– Anemia and jaundice– Pathogenesis – Figure 10-11
• Nonimmune hydrops– Cardiovascular defects– Chromosomal anomalies– Fetal anemia
![Page 13: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/13.jpg)
Inborn Errors of Metabolism
• PKU• Galactosemia• Cystic Fibrosis
![Page 14: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/14.jpg)
Phenylketonuria (PKU)
• Biochemical abnormality:– Inability to convert phenylalanine into tyrosine– Hepatic PAH system• BH4, DHPR
– Important to recognize PKU variants– Severe mental retardation, seizures, decreased
pigmentation of hair and skin, eczema– Maternal PKU
![Page 15: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/15.jpg)
Galactosemia
• Two variants– More common – lack of GALT ( galactose-1-
phospahte uridyl transferase)– Rare – deficiency of galactokinase
• FTT, vomiting and diarrhea, jaundice, hepatomegaly, E. coli sepsis, cataracts, mental retardation
![Page 16: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/16.jpg)
Cystic Fibrosis • Also called mucoviscidosis• Disorder of ion transport in epithelial cells that affects
fluid secretion in exocrine glands and the epithelial lining of the respiratory, GI, and reproductive tracts
• Primary defect – Abnormal function of an epithelial chloride channel protein encoded by the CFTR gene
• Functions of CFTR– Regulates multiple ion channels and cellular processes– Functions are tissue-specific: sweat glands vs resp and GI tracts– Mediates transport of bicarbonate ions
![Page 17: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/17.jpg)
Cystic Fibrosis
• CFTR gene mutations– Class I: defective protein synthesis– Class II : abnormal protein folding, processing, and
trafficking– Class III: defective regulation– Class IV: decreased conductance– Class V: reduced abundance– Class VI: altered regulation of separate ion
channels
![Page 18: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/18.jpg)
Cystic Fibrosis
• NB screening – controversial• Clinical features and diagnostic criteria – Table
10-6
![Page 19: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/19.jpg)
SIDS• The sudden death if an infant under one year of age which
remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history.
• Risk factors and postmortem findings- Table 10-7• ALTE – apparent life-threatening event• Back to Sleep campaign• “Triple-risk” model– Vulnerable infant, critical developmental period of homeostatic
control, exogenous stressor
![Page 20: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/20.jpg)
Tumors and Tumor-Like Lesions of Infancy and Childhood
• Benign and tumor-like lesions• Malignant tumors– Incidence and types– Neuroblastic Tumors– Wilms Tumors
![Page 21: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/21.jpg)
Benign Tumors and Tumor-like Lesions
• Hemangioma• Lymphatic tumors• Fibrous tumors• Teratomas
![Page 22: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/22.jpg)
Malignant Tumors
• Incidence and types – Table 10-8• -blastomas• Small round cell tumors
![Page 23: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/23.jpg)
Neuroblastic Tumors• Spontaneous or therapy-induced differentiation of primitive neuroblasts into
mature elements, spontaneous tumor regression, wide range of clinical behaviour and prognosis
• ALK gene• Homer-Wright pseudorosettes, ganglioneuroma, Schwann cells• Staging• Prognostic factors – Table 10-9• Clinical features
– Abdominal masses, fevers, weight loss– “blueberry muffin”– Proptosis and periorbital echymosis– Catecholamine production– Bone pain, respiratory complaints, GI complaints
![Page 24: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/24.jpg)
Wilms Tumor
• Biology of tumor illustrates important aspects of childhood tumors– Relationship between malformations and neoplasia– Organogenesis and oncogenesis– Two-hit theory of recessive tumor suppressive genes– Role of premalignant lesions– Potential for judicious treatment modalities to
dramatically affect prognosis and outcome
![Page 25: Diseases of Infancy and Childhood](https://reader036.vdocuments.us/reader036/viewer/2022062302/56816758550346895ddc188c/html5/thumbnails/25.jpg)
Wilms Tumor• Nephrogenic rests• Large abdominal mass, hematuria, abdominal pain,
intestinal obstruction, hypertension• Syndromic tumor
– WAGR syndrome – aniridia, genital abnormalities, mental retardation
– Denys-Drash syndrome – gonadal dysgenesis, nephropathy– Beckwith-Wiedermann syndrome – enlargement of body
organs, genomic imprinting– WT1 and WT2– Beta-catenin