ABSTRACT
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal parenchyma and development of End Stage Renal Disease (ESRD) in about 50% of affected individuals at the age of 60 years. Extrarenal disease usually involves the liver, heart and vasculature. Cardiovascular manifestations occur in a high percentage of patients with ADPKD, including hypertension, left ventricular hypertrophy, cardiac valvular abnormalities, and intracranial aneurysms. An early treatment of hypertension may decreased the risk of cardiovascular complications, the leading cause of morbidity and mortality. The antihypertensive agents of choice should be ACE inhibitors and angiotensin II receptor antagonists. In this review, we will focuses on the cardiovascular problems of patients with ADPKD.
Subject(s)
Heart Diseases/etiology , Polycystic Kidney, Autosomal Dominant/complications , Adult , Child , Humans , Hypertension/etiology , Hypertension/therapy , Hypertrophy, Left Ventricular/etiology , Intracranial Aneurysm/etiologyABSTRACT
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist.
Subject(s)
Mutation , Polycystic Kidney, Autosomal Dominant/genetics , TRPP Cation Channels/genetics , Alleles , Biomarkers/blood , Genetic Counseling , Genotype , Humans , PhenotypeABSTRACT
A case of transcutaneous diethylene glycol poisoning with severe acute kidney injury, but a positive outcome, is described. A man without significant medical history was admitted to our hospital due to anuria, gastrointestinal symptoms, and hypertension. Ultrasonography excluded vascular damage and postrenal obstruction. Laboratory tests showed acute kidney injury and metabolic acidosis with increased anion gap; hemodialysis therapy was started. The brother of the patient reported that the patient had been smearing his skin with brake fluid containing diethylene glycol to treat a "dermatitis." Only supportive therapy was given due to the lack of a specific antidote. Continuous venovenous hemofiltration was performed. The kidney biopsy showed acute toxic proximal tubulonecrosis, without deposition of oxalate crystals. His neurologic condition worsened dramatically; supportive care was continued. Over time, acute kidney injury and neurologic damage gradually improved; 33 days after admission, he went to a rehabilitation unit for 5 months, with complete clinical recovery. Historically, diethylene glycol has been the cause of large-scale poisonings from ingestion of contaminated drugs. The clinical evolution is unpredictable. Treatment is not well defined; early hemodialysis treatment reduces levels of toxic metabolites, and fomepizole could be useful in cases with an early diagnosis. A comparison of the characteristics of diethylene glycol versus ethylene glycol poisoning is given.
Subject(s)
Acute Kidney Injury/etiology , Ethylene Glycols/poisoning , Skin Absorption , Acute Kidney Injury/therapy , Adult , Biopsy , Ethylene Glycols/adverse effects , Hemofiltration , Humans , Kidney/pathology , Male , Treatment OutcomeABSTRACT
Schaumann bodies are inclusion bodies, first described by Schaumann in 1941, typically seen in granulomatous diseases such as tuberculosis, sarcoidosis and chronic beryllium diseases. Williams WJ, in 1964, reported Schaumann bodies to occur in 10% of Crohn's disease (CD). We report a case of Crohn's disease, initially misdiagnosed as a schistosoma-related colitis for the presence of numerous calcified bodies resembling calcified ova and scattered granulomas. Subsequent biopsies showed more typical histological features and, in combination with a more complete clinical history, diagnosis of Crohn's disease was made.
