Nadine Ortiz Brüchle

Publications (2)2.38 Total impact

• Article: Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.

  Christel Eckmann-Scholz, Walter Jonat, Klaus Zerres, Nadine Ortiz-Brüchle
  [show abstract] [hide abstract]
  ABSTRACT: To describe early ultrasound findings in Meckel-Gruber syndrome (MKS) in first and second trimester of three families, detailed ultrasound findings have been documented in addition to pathoanatomical findings and results of DNA studies. A splice site mutation in the MKS4 gene could be detected. Clinical management accounting risk assessment for future pregnancies is discussed and early ultrasound markers in MKS are described. All cases were examined in a tertiary center for prenatal diagnosis by ultrasound. Necroscopy confirmed the clinical diagnosis. Fetal DNA analysis was accomplished in a reference center for MKS. In addition, ultrasound findings in early pregnancy of two further cases are described. Three couples presented with pregnancies complicated by MKS. The earliest diagnosis was suspected in 11 + 6 weeks of gestation and was confirmed in 13 + 0 weeks by ultrasound revealing a large occipital encephalocele and polycystic kidneys. Another case with recurrent MKS in two consecutive pregnancies was diagnosed in 20 weeks and 14 weeks of gestation, respectively. Here a close molecular genetic follow-up was performed leading to the detection of two mutations in the MKS4 gene in both fetuses. The third case was diagnosed in 15 weeks of gestation. Ultrasound findings in all pregnancies were doubtless and autopsies confirmed the diagnosis. Detection of MKS is already possible in the first trimester. Knowledge of the underlying genetic defect helps counseling the couples with recurrence of MKS and chorionic villi sampling in the first trimester of pregnancy can be offered.
  Archives of Gynecology 06/2012; 286(4):917-21. · 0.91 Impact Factor
• Article: Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.

  Hartmut P H Neumann, Janina Bacher, Zinaida Nabulsi, Nadine Ortiz Brüchle, Michael M Hoffmann, Elke Schaeffner, Jens Nürnberger, Markus Cybulla, Jochen Wilpert, Peter Riegler, Robert Corradini, Annette Kraemer-Guth, Pablo Azurmendi, Mercedes Nunez, Sven Gläsker, Klaus Zerres, Cordula Jilg
  [show abstract] [hide abstract]
  ABSTRACT: 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.
  International Urology and Nephrology 02/2012; · 1.47 Impact Factor