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Transient Familial Neonatal Hyperbilirubinemia

Lucey-Driscoll Syndrome


Presentation

  • An 8-page color insert presents over 40 photos that visually demonstrate key assessment findings for ear, skin, and other conditions. NEW![books.google.com]
  • Acronym HBLRTFN Synonyms Lucey-Driscoll syndrome Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Bilirubin is a product that is yellow in color and is usually present the most in the liver, gallbladder, and urine. When bilirubin levels get too high in the blood, they are poisonous to the brain.[diseaseinfosearch.org]
  • Infants with galactosemia typically present with poor feeding, emesis, abdominal distention, failure to thrive, and hypoglycemia.[aneskey.com]
Asymptomatic
  • الصفحة 476 - M, et al: e Antigen and anti-e in the serum of asymptomatic carrier mothers as indicators of positive and negative transmission of hepatitis B virus to their infants. N Engl J Med 1976:294:647-649 17. ‏ الصفحة 336 - RS, et al.[books.google.com]
  • As the liver matures, infants become asymptomatic until later in life, when they can present with intermittent hyperbilirubinemia ( 74 ). Diagnosis and management.[nature.com]
  • 結節性多発性動脈炎 polyarteritis nodosa 血栓症 thrombosis 限局性結節性過形成 focal nodular hyperplasia 原発性肝癌 primary liver cancer 原発性硬化性胆管炎 primary sclerosing cholangitis 原発性胆汁性肝硬変 primary biliary cirrhosis 症候性原発性胆汁性肝硬変 symptomatic primary biliary cirrhosis 無症候性原発性胆汁性肝硬変 asymptomatic[jsge.or.jp]
  • Of these, greenstick fractures are the most frequent and are usually asymptomatic.[aafp.org]
  • […] occurring in siblings or cousins, but also some mother/father-daughter/sons) [ 28 ].Further evidence for a familial component comes from a French study which reported that 21.4 percent of first degree relatives of patients with congenital hypothyroidism had asymptomatic[ojrd.biomedcentral.com]
Anemia
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
  • Other extrinsic causes of RBC destruction include the autoimmune, microangiopathic, and drug-induced hemolytic anemias.[aneskey.com]
  • Also, ecchymoses or petechiae (suggestive of hemolytic anemia) are noted. The physical examination should focus on signs of causative disorders.[merckmanuals.com]
  • […] hydrometrocolpos, ovarian mass (simple cyst, torsion, teratoma) Hepatobiliary masses : infections (viruses, bacteria), lysosomal storage diseases (glycogen storage diseases), congestive heart failure, tumors (hepatoblastoma), choledochal cyst, hemolytic anemias[ccfpprep.com]
  • カルニチン欠乏症 carnitine deficiency カロリ病 Maladie de Caroli (仏), Caroli disease カロチン血症 carotenemia 川崎病 Kawasaki disease 肝アスペルギルス症 hepatic aspergillosis 肝アミロイドーシス,アミロイド肝 hepatic amyloidosis, amyloid liver 肝炎 hepatitis 肝炎後再生不良性貧血 hepatitis-associated aplastic anemia[jsge.or.jp]
Jaundice
  • Quick Summary: There are several types of jaundice that affect a newborn child Breastfeeding Jaundice is a common disorder affecting healthy infants shortly after birth.[dovemed.com]
  • It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).[en.wikipedia.org]
  • Format Definition A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants.[uniprot.org]
  • It is different from breast milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).[wikidoc.org]
  • It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). Genetics Lucey–Driscoll syndrome has an autosomal recessive pattern of inheritance.[ipfs.io]
Neonatal Jaundice
  • Research of Lucey-driscoll Syndrome (disorder) has been linked to Hyperbilirubinemia, Hereditary, Hyperbilirubinemia, Neonatal, Neonatal Jaundice, Kernicterus, Hyperbilirubinemia.[novusbio.com]
  • Preferred Name Fetal and neonatal jaundice, NOS Synonyms Physiologic jaundice in newborn, NOS ID altLabel Physiologic jaundice in newborn, NOS Neonatal jaundice, NOS Foetal and neonatal jaundice, NOS Neonatal hyperbilirubinemia, NOS cui C0857007 C0022353[purl.bioontology.org]
  • In Neonatal Jaundice; i Maisels, M. J.; Watchko, J. F., Eds.; Harwood Acadernic Publishers, Amsterdam, pp.139-168 3. Dennery, P. A. (2001) Toe biology of heme oxygenase during development. NeoReviews 2, e67-e72. 4. Gale. R.; Seidman, D.[revistas.unilibre.edu.co]
  • Yellow staining of brain structures first described by Hervieux in 1847, later associated with neonatal jaundice by Schmorl in 1903.[emilytam.com]
  • In the case of newborns with neonatal jaundice or transient familial hyperbilirubinemia, the liver will eventually become able to process the bilirubin and the treatment can be discontinued.[livestrong.com]
Heart Disease
  • Effect of partial ileal bypass surgery on mortality and morbidity from coronary heart disease in patients with hypercholesterolemia. Repon of the Program on the Surgical Control of Hyperlipidemias (POSCH). ‏[books.google.com]
  • In newborns, a murmur does not always signify the presence of heart disease, nor does the absence of a murmur provide reassurance of normalcy.[aafp.org]
  • disease (15% to 25%), gastrointestinal anomalies (midgut volvulus, Meckel’s diverticulum, intestinal atresia and duplication, imperforate anus, colonic agenesis), and neurologic and renal anomalies (20%) Gastroschisis Clinical features: no sac covering[ccfpprep.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Phenylketonuria
  • MABRY CC et al. (1963) MATERNAL PHENYLKETONURIA. A CAUSE OF MENTAL RETARDATION IN CHILDREN WITHOUT THE METABOLIC DEFECT. [ ] 4. NEWMAN AJ et al. (1963) HYPERBILIRUBINEMIA IN BREAST-FED INFANTS. [ ] 5.[moldiag.com]
  • Dilantin]); genetic factors such as small maternal size or chromosomal disorder (trisomy 13, 18, and 21 syndromes, Turner's syndrome); intrauterine infections such as TORCH, bacterial (tuberculosis), or spirochetic (syphilis); metabolic disorders such as phenylketonuria[aafp.org]
  • Dilantin]); genetic factors such as small maternal size or chromosomal disorder (trisomy 13, 18, and 21 syndromes, Turner’s syndrome); intrauterine infections such as TORCH, bacterial (tuberculosis), or spirochetic (syphilis); metabolic disorders such as phenylketonuria[ccfpprep.com]
Renal Impairment
  • Effect of intravenous albumin on renal impairment and mortality in patients with cirrhosis and spontaneous bacterial peritonitis. N Engl J Med 1999; 341:403-409. ‏[books.google.com]

Workup

Hypercholesterolemia
  • Effect of partial ileal bypass surgery on mortality and morbidity from coronary heart disease in patients with hypercholesterolemia. Repon of the Program on the Surgical Control of Hyperlipidemias (POSCH). ‏[books.google.com]
  • […] to be normolipemic at follow-up It is concluded that the measurement of prebeta-β-lipoprotein in cord serum allows the identification of children with familial type II hyperlipoproteinemia, if infants with transient neonatal hypertriglyceridemia and hypercholesterolemia[pediatrics.aappublications.org]
  • 壊血病 scorbutus 核黄疸 Kernikterus (独), kernicterus, nuclear jaundice 家族性アミロイドーシス familial amyloidosis 家族性アミロイドポリニューロパチー familial amyloidotic polyneuropathy 家族性LCAT欠損症 familial lecithin cholesterol acyltransferase deficiency 家族性高コレステロール血症 familial hypercholesterolemia[jsge.or.jp]
Polyps
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • Treatment for the condition usually includes phototherapy, or shining a blue light on the baby’s skin to decrease the levels of bilirubin in the body.[diseaseinfosearch.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • You can help by adding to it. ( August 2017 ) Treatment [ edit ] This section is empty.[en.wikipedia.org]

Prognosis

  • Differentiating Lucey-Driscoll syndrome from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Natural History Complications Prognosis Diagnosis Genetics Lucey-Driscoll syndrome has an autosomal[wikidoc.org]
  • […] may have a risk of developing certain medical complications Please find comprehensive information on Breastfeeding Jaundice regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • Expectations (prognosis) Babies who are treated can have a good outcome. If the condition is not treated, severe complications develop. This disorder tends to improve with time.[nicklauschildrens.org]
  • Chardot C, Carton M, Spire-Bendelac N, et al: Prognosis of biliary atresia in the era of liver transplantation: French national study from 1986 to 1996. Hepatology 1999;30:606–611.[karger.com]
  • In general, the prognosis of infants detected by screening and started on treatment early is excellent, with IQs similar to sibling or classmate controls.[ojrd.biomedcentral.com]

Etiology

  • The diagnosis of this syndrome in a child with seizures is based on five criteria: normal neurologic examination negative evaluation for another etiology of the seizures normal developmental and intellectual outcome positive family history of newborn[epilepsy.com]
  • Clinicians must follow a systematic approach to distinguish between the physiologic and pathologic etiologies of unconjugated hyperbilirubinemia in order to promptly identify children in need of immediate intervention.[aneskey.com]
  • Unresolved questions The underlying etiology of thyroid dysgenesis remains largely unknown.[ojrd.biomedcentral.com]
  • : uteroplacental insufficiency with chronic fetal hypoxia Large for gestational age (birth weight above 90th percentile) Features: increased incidence of perinatal asphyxia and birth injuries; respiratory distress syndrome; hypoglycemia Etiology: maternal[aafp.org]
  • […] chorea, dystonia, ballismus vertical gaze palsy, hearing disturbances (especially high frequency range) mental retardation Imaging: high signal intensity of the globus pallidus on T2 weighted MRI Laboratory findings: high serum bilirubin other tests for etiology[emilytam.com]

Epidemiology

  • Differentiating Lucey-Driscoll syndrome from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Natural History Complications Prognosis Diagnosis Genetics Lucey-Driscoll syndrome has an autosomal[wikidoc.org]
  • K. (1990) Epidemiology of neonatal jaundice in the Jerusalem population. J. Pediatr. Gastroenterol. Nutr. 10, 82-86. 5. Boo NY, WOng FL, Wang MK, Othman A. Homozygous variant of UGTlAl gene mutation and severe neonatal hyperbilirubinemia.[revistas.unilibre.edu.co]
  • Epidemiology although neonatal jaundice is common, progression to kernicterus is rare incidence in US of 5 cases per year boys more susceptible than girls inverse relationship to gestational age at birth Risk factors: hyperbilirubinemia in the neonatal[emilytam.com]
  • Chardot C, Carton M, Spire-Bendelac N, et al: Epidemiology of biliary atresia in France: a national study. J Hepatol 1999;31:1006–1013.[karger.com]
  • Kreiter is currently completing a master's degree in epidemiology at Wake Forest University.[aafp.org]
Sex distribution
Age distribution

Pathophysiology

  • Historical Perspective Classification Pathophysiology Causes The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn.[wikidoc.org]
  • In Neonatology: pathophysiology and management of the newborn; Avery, G.B.;Fletcher,M.A.;MacDonald,M.G.; Eds.; Lippincott Williams and Wilkins, Philadalphia, 5th ed, pp. 765-819. 2. Maisels, M.[revistas.unilibre.edu.co]
  • Google Scholar GeneTests: [ ] EuroGentest: [ ] Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology[ojrd.biomedcentral.com]

Prevention

  • […] other illnesses, may have a risk of developing certain medical complications Please find comprehensive information on Breastfeeding Jaundice regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention[dovemed.com]
  • Diagnostic Criteria History and Symptoms Physical Examination Laboratory Findings Imaging Findings Other Diagnostic Studies Treatment Medical Therapy Surgery Prevention References External Links Online Mendelian Inheritance in Man (OMIM) 237900 - transient[wikidoc.org]
  • Covering the full spectrum of health conditions seen in the primary care of children, Pediatric Primary Care, 5th Edition emphasizes both prevention and management from the unique perspective of the Nurse Practitioner.[books.google.com]
  • Prevention Phototherapy can help prevent the potentially serious complications of this disorder.[nicklauschildrens.org]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]

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