BACKGROUND: ADPKD is one of the most common inherited disorders, with high risk for end-stage renal disease. Numerous patients, however, have no relatives in whom this disorder is known and are unsure whether they may transmit the disease to their offsprings. The aim of this study was to evaluate whether germline mutation analysis adds substantial information to clinical symptoms for diagnosis of ADPKD in these patients. METHODS: Clinical data included renal function and presence of liver or pancreas cysts, heart valve insufficiency, intracranial aneurysms, colonic diverticles, and abdominal hernias. Family history was evaluated regarding ADPKD. Germline mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and for large deletions. RESULTS: A total of 324 adult patients with ADPKD including 30 patients without a family history of ADPKD (sporadic cases) were included. PKD1 mutations were found in 24/30 and PKD2 mutations in 6 patients. Liver cysts were present in 14 patients and intracranial aneurysms in 2 patients. Fourteen patients (45%) had no extrarenal involvement. Compared to the 294 patients with familial ADPKD, the clinical characteristics and the age at the start of dialysis were similar in those with sporadic ADPKD. CONCLUSION: The clinical characteristics of patients with sporadic and familial ADPKD are similar, but sporadic ADPKD is often overlooked because of the absence of a family history. Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD.
BACKGROUND:ADPKD is one of the most common inherited disorders, with high risk for end-stage renal disease. Numerous patients, however, have no relatives in whom this disorder is known and are unsure whether they may transmit the disease to their offsprings. The aim of this study was to evaluate whether germline mutation analysis adds substantial information to clinical symptoms for diagnosis of ADPKD in these patients. METHODS: Clinical data included renal function and presence of liver or pancreas cysts, heart valve insufficiency, intracranial aneurysms, colonic diverticles, and abdominal hernias. Family history was evaluated regarding ADPKD. Germline mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and for large deletions. RESULTS: A total of 324 adult patients with ADPKD including 30 patients without a family history of ADPKD (sporadic cases) were included. PKD1 mutations were found in 24/30 and PKD2 mutations in 6 patients. Liver cysts were present in 14 patients and intracranial aneurysms in 2 patients. Fourteen patients (45%) had no extrarenal involvement. Compared to the 294 patients with familial ADPKD, the clinical characteristics and the age at the start of dialysis were similar in those with sporadic ADPKD. CONCLUSION: The clinical characteristics of patients with sporadic and familial ADPKD are similar, but sporadic ADPKD is often overlooked because of the absence of a family history. Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD.
Authors: T Mochizuki; G Wu; T Hayashi; S L Xenophontos; B Veldhuisen; J J Saris; D M Reynolds; Y Cai; P A Gabow; A Pierides; W J Kimberling; M H Breuning; C C Deltas; D J Peters; S Somlo Journal: Science Date: 1996-05-31 Impact factor: 47.728
Authors: Sandro Rossetti; Sarah Burton; Lana Strmecki; Gregory R Pond; Jośe L San Millán; Klaus Zerres; T Martin Barratt; Seza Ozen; Vicente E Torres; Erik J Bergstralh; Christopher G Winearls; Peter C Harris Journal: J Am Soc Nephrol Date: 2002-05 Impact factor: 10.121
Authors: Sandro Rossetti; Dominique Chauveau; Vickie Kubly; Jeffrey M Slezak; Anand K Saggar-Malik; York Pei; Albert C M Ong; Fiona Stewart; Michael L Watson; Erik J Bergstralh; Christopher G Winearls; Vicente E Torres; Peter C Harris Journal: Lancet Date: 2003-06-28 Impact factor: 79.321
Authors: Hartmut P H Neumann; Angelica Malinoc; Janina Bacher; Zinaida Nabulsi; Vera Ivanovas; Nadine Ortiz Bruechle; Irina Mader; Michael M Hoffmann; Peter Riegler; Annette Kraemer-Guth; Christian Burchardi; Elke Schaeffner; Rodolfo S Martin; Pablo J Azurmendi; Klaus Zerres; Cordula Jilg; Charis Eng; Sven Gläsker Journal: Cerebrovasc Dis Extra Date: 2012-10-09