Tsafra Ilan, MSc, Tamy Shohat, MD, Ana Tobar, MD, Nurit Magal, PhD, Michal Yahav, BSc, Gabrielle J. Halpern, MB, ChB, Gidi Rechavi, MD and Mordechai Shohat, MD
Background: Familial nephritis is a heterogeneous group of disorders caused by several genetic conditions such as Alport syndrome, glomerulonephritic syndromes, and unclassified nephritis without deafness or ocular defects.
Objectives: To describe a family of Iraqi Jewish origin, several of whose members suffer from non-syndromic renal failure without deafness or ocular defects and where transmission is by autosomal dominant inheritance. We present the case histories of four family members and describe the molecular analysis performed in order to seek a possible linkage to one of the genes causing Alport or Alport-like syndromes.
Methods: We investigated all family members over the age of 18 for evidence of renal failure. We also extracted DNA and carried out molecular linkage analysis with polymorphic markers in each of the known loci involved in Alport and Alportlike syndromes.
Results: Histology of the renal biopsy specimens showed non-specific findings. Linkage was excluded for all the Alport and Alport-like syndrome loci.
Conclusions: The condition suffered by several members of this family seems to represent a unique autosomal dominant type of progressive hereditary nephritis, characterized by hypertension and progressive renal failure without significant hematuria or proteinuria. The main histological changes are non-specific in the early stage of the disease. Our study rules out all the currently known genes that cause Alport syndrome as being responsible for the basic defect in this type of nephritis.
Pesach Shvartzman, MD, Howard Tandeter, MD, Aya Peleg, MD, Hava Tabenkin, MD, Nakar Sasson, MD and Jeffrey Borkan, MD, PhD
Background: Lower urinary tract symptoms are highly prevalent in older men, have been shown to affect men’s quality of life, and may be associated with more serious outcomes.
Objectives: To determine the prevalence of LUTS among men aged 50 years or older registered at family practice centers in Israel and to assess the effect of these complaints on different aspects of their life.
Methods: In a random sample cohort of men aged 50 years and older, fluent in Hebrew, drawn from those registered in four family clinics in Israel, patients identified with LUTS were interviewed by phone using a structured questionnaire.
Results: The prevalence of LUTS in our study was 21%. Less than a third of these patients had low severity LUTS (28%), 59% were rated moderate, and 13% had severe symptoms. Age had a positive correlation with the severity of LUTS, and increasing severity of symptoms had a negative effect on the daily function and quality of life of patients.
Conclusions: Our community-based study shows that LUTS is a common finding among men above the age of 50 (21%) and has a significant negative effect on their quality of life and daily function. Knowledge of these data should make primary care physicians more aware of this common problem and thus improve the treatment and quality of life of these patients by better identification and prompt treatment.
Yosef S. Haviv, MD and Jerry Blackwell, PhD
Noberto Krivoy, MD, Lili Struminger, MSc, Regina Bendersky, MD, Irit Avivi, MD, Manuela Neuman, PhD and Shimon Pollack, MD