Fetal Hydrops Overview

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Questions and Answers

What is the most common cause of nonimmune hydrops?

Infection with Parvovirus B19

Chromosomal abnormalities

Twin-twin transfusion syndrome

Homozygous a-thalassemia (correct)

Which feature is associated with hydrops caused by fetal anemia?

Presence of congenital heart defects

Increased amniotic fluid levels

Pale fetus and placenta (correct)

Dysmorphic features

What is the most serious threat associated with fetal hydrops?

Kernicterus (correct)

Infection

Neonatal diabetes

Anemia

Which condition results from the viral replication of Parvovirus B19 in red cell progenitors?

Red cell aplasia Signup and view all the answers

What clinical feature is most likely to be observed in gravely ill neonates with fetal hydrops?

Generalized edema Signup and view all the answers

What type of disorders are inborn errors of metabolism typically associated with?

Autosomal recessive or X-linked traits Signup and view all the answers

Which of the following treatments is NOT used for managing fetal hydrops?

Corticosteroid therapy Signup and view all the answers

What morphological change is associated with bone marrow during fetal anemia?

Compensatory hyperplasia of erythroid precursors Signup and view all the answers

Which of the following findings is characteristic of kernicterus in fetal hydrops?

Brain is bright yellow and edematous Signup and view all the answers

What is the most common tumor of infancy?

Hemangioma Signup and view all the answers

Which type of tumor is characterized by cystic and cavernous spaces?

Lymphangioma Signup and view all the answers

Which condition is associated with flat, larger lesions known as port-wine stains?

Von Hippel-Lindau disease Signup and view all the answers

What chromosomal translocation is associated with congenital-infantile fibrosarcoma?

t(12;15)(p13;q25) Signup and view all the answers

What type of tumor results in abnormal dilations of pre-existing lymph channels?

Lymphangiectasis Signup and view all the answers

Which of the following statements about lymphangiomas is true?

They may increase in size after birth due to fluid accumulation. Signup and view all the answers

What is a feature of galactokinase deficiency?

Milder form of galactosemia Signup and view all the answers

Which of the following is a method for diagnosing galactosemia?

Detection of a reducing sugar other than glucose in urine Signup and view all the answers

What is typically included in the management of galactosemia?

Early removal of galactose from diet for at least two years Signup and view all the answers

What is the primary defect in cystic fibrosis?

Mutations in the CFTR gene affecting chloride channels Signup and view all the answers

Which of the following complications is associated with cystic fibrosis?

Hepatic cirrhosis Signup and view all the answers

What type of inheritance pattern is evidenced in cystic fibrosis?

Autosomal recessive Signup and view all the answers

Which of the following is NOT a consequence of cystic fibrosis?

Impaired insulin production Signup and view all the answers

Which symptom is a direct result of the abnormally viscous secretions in cystic fibrosis?

Obstruction of organ passages Signup and view all the answers

How does the mutated CFTR gene affect sweat ducts in cystic fibrosis?

Causes abnormal channel function, inhibiting sodium uptake Signup and view all the answers

What is a common gastrointestinal symptom of cystic fibrosis?

Steatorrhea Signup and view all the answers

What causes hyperphenylalaninemia in Phenylketonuria (PKU)?

Inability to convert phenylalanine to tyrosine Signup and view all the answers

What is a notable clinical feature present in untreated PKU by six months of age?

Severe mental retardation Signup and view all the answers

What is a potential risk for offspring of mothers with untreated Maternal PKU?

Congenital heart disease Signup and view all the answers

Which characteristic odor may be present in the urine and sweat of individuals with PKU?

Musty Signup and view all the answers

What are the characteristics of cystic changes in the pancreas?

Ectatic, dilated ducts filled with eosinophilic material Signup and view all the answers

What is a common outcome for females with PKU if they adhere to dietary restrictions in early life?

Asymptomatic until adulthood Signup and view all the answers

Which grade of pancreatic changes indicates total obliteration of exocrine glands and ducts?

Grade IV Signup and view all the answers

Which cofactor's deficiency affects the synthesis and recycling in Phenylketonuria?

Tetrahydrobiopterin (BH4) Signup and view all the answers

What is a sign of portal tracts expansion in hepatobiliary diseases?

Increased number of bile ductules Signup and view all the answers

In which type of hyperphenylalaninemia do mutations result in modest elevations without neurologic damage?

Benign hyperphenylalaninemia Signup and view all the answers

What laboratory test result indicates elevated sweat chloride associated with certain diseases?

Greater than 60 mEq/L Signup and view all the answers

What change occurs in the pancreas with exocrine atrophy?

Replacement of atrophic lobules by interstitial fibrosis Signup and view all the answers

What is a symptom commonly observed in both mothers with PKU and their offspring if not properly managed?

Microcephaly Signup and view all the answers

What factor inversely relates to the clinical phenotype of PKU?

Amount of residual enzyme activity Signup and view all the answers

In hepatobiliary disease, what type of fibrosis is observed with bridging fibrosis?

Progressive portal fibrosis Signup and view all the answers

In Galactosemia, what is lactose split into in normal metabolism?

Glucose and galactose Signup and view all the answers

What morphological characteristic is noted in sweat glands of patients with elevated sweat chloride?

Morphologically unaffected Signup and view all the answers

Which type of pancreas change indicates lipomatosis?

Grade III Signup and view all the answers

What is the result of ductular reaction in hepatobiliary conditions?

Dilated bile ductules containing plugs Signup and view all the answers

What condition can lead to exocrine acinar atrophy?

Obstruction-related changes Signup and view all the answers

Study Notes

Fetal Hydrops

Most severe and generalized manifestation of fetal edema
Lesser degrees of edema are isolated pleural, peritoneal, or post-nuchal fluid collections
Dysmorphic features present in hydrops associated with a chromosomal abnormality
Fetus and Placenta are pale in hydrops associated with fetal anemia
Enlarged liver and spleen due to cardiac failure and congestion are present in fetal anemia
Bone marrow: compensatory hyperplasia of erythroid precursors (except in parvovirus-associated aplasia)
Extramedullary hematopoiesis in liver, spleen, and lymph nodes with large numbers of reticulocytes, normoblasts, and erythroblasts in the peripheral circulation
Kernicterus (CNS damage) is the most serious threat in fetal hydrops
Brain is enlarged and edematous, bright yellow, and neural damage occurs with a bilirubin level of >20 mg/dL

Clinical Features of Fetal Hydrops

Minimally affected infants: pallor, hepatosplenomegaly
Gravely ill neonates: intense jaundice, generalized edema, signs of neurologic injury
Management: Phototherapy, total exchange transfusion

Inborn Errors of Metabolism

Well-characterized genetic abnormalities that cause metabolic disorders
Inherited as autosomal recessive or X-linked traits
Abnormalities suggesting inborn errors of metabolism: mental retardation, seizures, failure to thrive, hepatomegaly, jaundice, abnormal urine odor

Phenylketonuria (PKU)

Autosomal recessive disorder causing a deficiency in phenylalanine hydroxylase (PAH)
Hyperphenylalaninemia: degree and clinical phenotype are inversely related to the amount of residual enzyme activity
Biochemical abnormality: Inability to convert phenylalanine to tyrosine, resulting in the formation of intermediates excreted in urine and sweat.
Lack of tyrosine causes a lack of melanin, leading to a light color of hair and skin.
Clinical features: Normal at birth, rising plasma phenylalanine level within a few weeks, severe mental retardation after 6 months of life.
Maternal PKU: offspring may exhibit mental retardation, microcephaly, and congenital heart disease.
Benign hyperphenylalaninemia: mutations cause modest elevations in blood phenylalanine without neurologic damage.
Other causes of PKU: Abnormalities in synthesis and recycling of tetrahydrobiopterin (BH4)

Galactosemia

Autosomal recessive disorder of galactose metabolism:
Normal metabolism: Lactose is split into glucose and galactose in the intestinal microvilli by lactase, galactose is then converted to glucose in 3 steps.
Clinical features: Failure to thrive, jaundice, hepatomegaly, cataracts, mental retardation.
Diagnosis: Demonstration in the urine of a reducing sugar other than glucose, antenatal assay of GALT in cultured amniotic fluid or determination of galactitol level in the amniotic fluid supernatant.
Management: Early removal of galactose from the diet for at least the first 2 years of life.

Cystic Fibrosis (Mucoviscidosis)

Inherited disorder of ion transport affecting fluid secretion in exocrine glands and epithelial lining of the respiratory, gastrointestinal, and reproductive tract.
Clinical features: Chronic lung disease, steatorrhea, hepatic cirrhosis, male infertility, pancreatic insufficiency, intestinal obstruction, and malnutrition.
Cystic fibrosis gene: Autosomal recessive pattern, primary defect in epithelial chloride channel protein encoded by cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7q31.2.
CFTR function: Chloride-conductance channel in sweat ducts, mutated CFTR causes abnormal or absent channel.
Special studies: Elevated sweat chloride (>60 mEq/L), sweat glands are morphologically unaffected but produce high salt-containing sweat.

Benign Tumors and Tumor-Like Lesions

Hemangioma

Most common tumor of infancy, classified as cavernous or capillary.
Skin (face and scalp) lesions: port-wine stains are flat, larger lesions that may represent vascular ectasias.
May enlarge with the growth of the child but mostly spontaneously regress.

Lymphatic Tumors

Lymphangiomas: Hamartous or neoplastic, cystic and cavernous spaces, occur in the skin and deeper regions of the neck, axilla, and mediastinum.
Lymphangiectasis: abnormal dilations of pre-existing lymph channels, present as diffuse swelling of part or all of an extremity.

Fibrous Tumors

Fibromatosis: sparsely cellular proliferations of spindle-shaped cells.
Congenital-infantile fibrosarcoma: richly cellular lesions indistinguishable from fibrosarcomas in adults, excellent prognosis, chromosomal translocation t(12;15)(p13;q25) → ETV6-NTRK3 fusion transcript.
Myofibroma: nodular proliferates of fibroblast and myofibroblast cells.

Ectopic Tissues

Small, well-defined islands of cells that do not reproduce the normal architecture of the surrounding tissue examples: pancreatic tissue in the wall of the stomach or a small mass of adrenal cells in the kidney.

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Description

Explore the critical aspects of fetal hydrops, a condition characterized by severe fetal edema and various clinical manifestations. Understand the impacts of chromosomal abnormalities and the physiological changes during fetal anemia, including organ enlargement and hyperplasia. This quiz will enhance your knowledge of the diagnosis and complications associated with fetal hydrops.