Search results for "Autosomal Recessive Polycystic Kidney Disease"

showing 3 items of 3 documents

Congenital Hepatic Fibrosis

2005

The disease presentation of autosomal recessive polycystic kidney disease (OMIM #263200, ARPKD) is highly variable and includes polycystic kidneys, pulmonary hypoplasia, and congenital hepatic fibrosis. The authors report an unusual case of ARPKD presenting with hepatosplenomegaly and cytopenia mimicking acute leukemia.

Liver CirrhosisMalePathologymedicine.medical_specialtyAdolescentPancytopeniaHepatosplenomegalyurologic and male genital diseasesPulmonary hypoplasiahemic and lymphatic diseasesmedicineHumanscytopeniaPolycystic Kidney Autosomal RecessivesplenomegalyCytopeniaAcute leukemiapolycystic kidney diseasebusiness.industryHematologymedicine.diseasePancytopeniaeye diseasesfemale genital diseases and pregnancy complicationsAutosomal Recessive Polycystic Kidney DiseaseOncologyDisease PresentationPediatrics Perinatology and Child HealthCongenital hepatic fibrosismedicine.symptomTomography X-Ray ComputedbusinessHepatomegalyJournal of Pediatric Hematology/Oncology
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Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

2020

Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…

Pediatricsmedicine.medical_specialtyGenotype-phenotype correlationGenotypemedicine.medical_treatmentARPKDPulmonary insufficiencyReceptors Cell SurfaceCase ReportPeritoneal dialysisSepsis03 medical and health sciencesLiver diseaseConsanguinity0302 clinical medicineFatal OutcomeNext generation sequencingmedicineHumansGenetic Predisposition to DiseaseEthicPotter sequencePolycystic Kidney Autosomal RecessiveEthicsbusiness.industrylcsh:RJ1-570Infant Newbornlcsh:Pediatricsmedicine.diseaseAutosomal Recessive Polycystic Kidney DiseaseRespiratory failure030220 oncology & carcinogenesisMutationFemalebusiness030217 neurology & neurosurgeryInfant PrematureBilateral NephrectomyPotter sequence
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Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

2000

We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included “butterfly” vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidney…

medicine.medical_specialtyPathologyGenetic heterogeneityBiologyCystic Changemedicine.diseaseAutosomal Recessive Polycystic Kidney DiseaseEndocrinologyGenetic linkageInternal medicinemedicineCystHypertelorismmedicine.symptomGenetics (clinical)Potter SyndromeKidney diseaseAmerican Journal of Medical Genetics
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