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Questions and Answers

What enzyme is deficient in reaction 1 of metabolism of galactose

galactokinase

What enzyme is deficient in reaction 2 of metabolism of galactose?

galactose-1-phosphate uridyl transferase (GALT)

polyol metabolite

galactitol

oxidized byproduct of excess galactose

<p>galactonate</p> Signup and view all the answers

increased osmotic pressure by galactitol accumulation leads to

<p>cataract</p> Signup and view all the answers

accumulation of galactose and galactose-1-phosphate that impairs amino acid transport

<p>Aminoaciduria</p> Signup and view all the answers

depressed neutrophil bactericidal activity

<p>E. coli septicemia</p> Signup and view all the answers

➔ Inherited disorder of ion transport ➔ Affects fluid secretion in exocrine glands and epithelial lining of respiratory, gastrointestinal, and reproductive tract

<p>Cystic fibrosis (mucoviscidosis)</p> Signup and view all the answers

Defect in cystic fibrosis

<p>CFTR gene on chromosome 7q31.2</p> Signup and view all the answers

Mutated CFTR gene in sweat glands inhibits what channel

<p>ENaC</p> Signup and view all the answers

Mutated CFTR inhibits secretion of HCO3 in the lumen producing acidic fluid causing

<p>Increased mucin precipitation and plugging of ducts, Increased binding of bacteria to plugged mucins</p> Signup and view all the answers

Defective protein synthesis , complete lack of CFTR protein at the apical surface

<p>Class I</p> Signup and view all the answers

Abnormal protein folding, processing, and trafficking, Protein does not become fully folded and glycosylated, Most common mutations: deletion of 3 nucleotides coding for phenylalanine at amino acid position 508

<p>Class II</p> Signup and view all the answers

Defective regulation, Prevent activation of CFTR by abrogating ATP binding and hydrolysis o Normal amount of CFTR but nonfunctional

<p>Class III</p> Signup and view all the answers

Decreased conductance, Typically occur in the transmembrane domain o Normal amount but reduced function → milder phenotype

<p>Class IV</p> Signup and view all the answers

Reduced abundance, Affect intronic splice sites of the CFTR promoter → reduced amount of normal protein

<p>Class V</p> Signup and view all the answers

Altered function in regulation of ion channels, Affect regulatory role of CFTR

<p>Class VI</p> Signup and view all the answers

Genetic modifiers

<p>o Mannose Binding Lectin 2 (MBL2) o Alginate producing bacteria o Transforming Growth Factor B1 o Concurrent viral infections o Interferon-Related Developmental Regulator 1 (IFRD1)</p> Signup and view all the answers

Environmental modifiers

<p>o Infection by Pseudomonas aeru ginosa o Alginate producing bacteria o Concurrent viral infections</p> Signup and view all the answers

Accumulation of secretion

<p>Grade I</p> Signup and view all the answers

Exocrine atrophy

<p>Grade II</p> Signup and view all the answers

Atrophy with lipomatosis

<p>Grade III</p> Signup and view all the answers

Grade IV

<p>fibrosis with total obliteration of the exocrine glands and ducts with scattered islets</p> Signup and view all the answers

▪ Increase the function of CFTR channels ▪ Example: increases probability of Gly551Asp-CFTR channel opening

<p>Potentiators (Ivacaftor)</p> Signup and view all the answers

▪ improve the intracellular processing and delivery of mutant CFTR → reach the cell surface ▪ example: lumacaftor in Phe508del-CFTR

<p>Correctors (Lumacaftor)</p> Signup and view all the answers

▪ Promote read-through of premature termination codons in mRNA → generate more CFTR ▪ Example: Ataluren in class I mutations

<p>Production Correctors (Ataluren)</p> Signup and view all the answers

Sudden death of an infant under 1 year of age which remains unexplained , Also referred to as crib death or cot death (because the infant usually dies while asleep)

<p>SIDS</p> Signup and view all the answers

have an unexpected anatomic or biochemical basis discernable at autopsy

<p>Sudden unexpected infant death (SUID)</p> Signup and view all the answers

Most common neoplasms of childhood

<p>soft tissue tumors of mesenchymal derivation</p> Signup and view all the answers

Microscopically normal cells or tissues that are present in abnormal locations

<p>Heterotopia or Choristoma</p> Signup and view all the answers

o Excessive focal overgrowth of cells native to the organ in which it occurs. o Cellular elements are mature and identical to those found in the remainder of the organ.

<p>Hamartoma</p> Signup and view all the answers

o Excessive focal overgrowth of cells native to the organ in which it occurs. o Cellular elements are mature and identical to those found in the remainder of the organ.

<p>Hamartoma</p> Signup and view all the answers

Port wine stains, spontaneously regress, von Hippel-Lindau disease

<p>Hemangioma</p> Signup and view all the answers

  • characterized by cystic and cavernous spaces
  • may occur in the skin but more often encountered in deeper regions of neck, axilla, mediastinum
  • increase in size after birth d/t accumulation of fluid and budding of preexisting spaces

<p>Lymphangiomas</p> Signup and view all the answers

  • abnormal dilations of pre-existing lymph channels
  • presents as diffuse swelling of part or all of an extremity
  • lesion is not progressive

<p>Lymphangiectasis</p> Signup and view all the answers

sparsely cellular proliferations of spindle-shaped cells

<p>Fibromatosis</p> Signup and view all the answers

chromosomal translocation t(12;15)(p13;q25) → ETV6-NTRK3 fusion transcript

<p>Congenital-infantile fibrosarcoma</p> Signup and view all the answers

benign, well-differentiated cystic lesions

<p>mature teratomas</p> Signup and view all the answers

benign, well-differentiated cystic lesions

<p>mature teratomas</p> Signup and view all the answers

lesions of indeterminate potential

<p>immature teratomas</p> Signup and view all the answers

lesions of indeterminate potential

<p>immature teratomas</p> Signup and view all the answers

usually admixed with another germ cell tumor

<p>unequivocally malignant teratomas</p> Signup and view all the answers

most common teratoma in childhood (40% of cases), four times more common in girls than in boys

<p>Sacrococcygeal teratoma</p> Signup and view all the answers

Includes tumors of the sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites

<p>Neuroblastic tumors</p> Signup and view all the answers

o Most common extracranial solid tumor of childhood o Most frequently diagnosed infant malignancy -Median age at diagnosis is 18 months

<p>Neuroblastoma</p> Signup and view all the answers

Important diagnostic feature in neuroblastoma

<p>Catecholamines</p> Signup and view all the answers

Presence of this “bumps” the tumor to the “high”-risk category, irrespective of age, stage, or histology

<p>MYCN amplification</p> Signup and view all the answers

o Most common primary renal tumor of childhood o Fourth most common pediatric malignancy. o Peak incidence: between 2 and 5 years of age, 95% occur <10 years old.

<p>Wilms tumor</p> Signup and view all the answers

first Wilms tumor–associated gene

<p>WT1</p> Signup and view all the answers

contiguously deleted autosomal dominant gene for aniridia

<p>PAX6</p> Signup and view all the answers

contiguously deleted autosomal dominant gene for aniridia

<p>PAX6</p> Signup and view all the answers

Characterized by: ✓ Wilms tumor ✓ Aniridia ✓ Genitourinary anomalies ✓ Intellectual disability (formerly called mental retardation) ▪ Individuals carry constitutional (germline) deletions of 11p13

<p>WAGR Syndrome</p> Signup and view all the answers

Characterized by: ✓ Wilms tumor ✓ Aniridia ✓ Genitourinary anomalies ✓ Intellectual disability (formerly called mental retardation) ▪ Individuals carry constitutional (germline) deletions of 11p13

<p>WAGR Syndrome</p> Signup and view all the answers

Characterized by: ✓ gonadal dysgenesis (male pseudohermaphroditism) ✓ early-onset nephropathy leading to renal failure ▪ Demonstrate germline abnormalities in WT1 involving bi-allelic inactivation

<p>Denys-Drash Syndrome</p> Signup and view all the answers

Characterized by: ✓ gonadal dysgenesis (male pseudohermaphroditism) ✓ early-onset nephropathy leading to renal failure ▪ Demonstrate germline abnormalities in WT1 involving bi-allelic inactivation

<p>Denys-Drash Syndrome</p> Signup and view all the answers

Characterized by enlargement of body organs (organomegaly) ✓ Macroglossia ✓ Hemihypertrophy ✓ Omphalocele ✓ Abnormal large cells in the adrenal cortex (adrenal cytomegaly) ▪ Localized to band 11p15.5 (so-called WT2 locus), distal to the WT1 locus.

<p>Beckwith-Wiedemann Syndrome</p> Signup and view all the answers

IGF2 protein

<p>embryonal growth factor</p> Signup and view all the answers

➔ Gain-of-function mutations of the gene encoding β-catenin (10%) ➔ Mutated genes encoding proteins involved in micro-RNA (miRNA) processing (DROSHA, DGCR8, and DICER1) → 15% to 20%

<p>Sporadic Wilms Tumor</p> Signup and view all the answers

➔ Gain-of-function mutations of the gene encoding β-catenin (10%) ➔ Mutated genes encoding proteins involved in micro-RNA (miRNA) processing (DROSHA, DGCR8, and DICER1) → 15% to 20%

<p>Sporadic Wilms Tumor</p> Signup and view all the answers

➔ Involved in “mesenchymal to epithelial transformation” ➔ If absent leads to persistent blastemal “rests” → evolves to Wilms tumor

<p>miR-200 family</p> Signup and view all the answers

➔ Involved in “mesenchymal to epithelial transformation” ➔ If absent leads to persistent blastemal “rests” → evolves to Wilms tumor

<p>miR-200 family</p> Signup and view all the answers

increased risk of Wilms tumors in the contralateral kidney

<p>nephrogenic rests</p> Signup and view all the answers

increased risk of Wilms tumors in the contralateral kidney

<p>nephrogenic rests</p> Signup and view all the answers

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