Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

New England Journal of Medicine

Volumn 359, Issue 3, 2008, Pages 318-319

  Bergmann, Carsten ^a   Brüchle, Nadina Ortiz ^a   Frank, Valeska ^a   Rehder, Helga ^b   Zerres, Klaus ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ECHOGRAPHY; GENE; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HISTOLOGY; HUMAN; KIDNEY POLYCYSTIC DISEASE; LETTER; OLIGOHYDRAMNIOS; PERINATAL DEATH; PKD2 GENE; PREGNANCY; PRIORITY JOURNAL; RESPIRATORY FAILURE; ADULT; CASE REPORT; FATALITY; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKER; GENETICS; MALE; NEWBORN; PEDIGREE;

PROTEIN SERINE THREONINE KINASE; PYRUVATE DEHYDROGENASE (ACETYL TRANSFERRING) KINASE; PYRUVATE DEHYDROGENASE (ACETYL-TRANSFERRING) KINASE;

ADULT; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKERS; HAPLOTYPES; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PREGNANCY; PROTEIN-SERINE-THREONINE KINASES;

EID: 47549117011     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc0801868     Document Type: Letter

References (5)

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3. Sweeney WE Jr, Avner ED. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res 2006;326:671-85.
4. Bear JC, McManamon P, Morgan J, et al. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling. Am J Med Genet 1984;18:45-53.
5. Zerres K, Rudnik-Schöneborn S, Deget F. Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. J Med Genet 1993;30:583-8.