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Editorial
mTOR Inhibitors in Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of inherited renal failure that is characterized by the progressive formation of renal cysts, which leads to end-stage renal disease in mid-adulthood. Furthermore, massive renal enlargement has a number of untoward consequences,…
Original Article
Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) affects approximately 1 of every 1000 persons in the general population and develops, by means of slowly progressive renal-cyst growth, to end-stage renal disease in over 50% of patients. Hepatic and pancreatic cysts, as well as cerebral and…
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In this 2-year, double-blind trial, patients with ADPKD were randomly assigned to receive either placebo or the mTOR inhibitor everolimus, since the mTOR pathway is important in cyst growth. Although everolimus slowed the increase in kidney volume, as assessed by means of magnetic resonance imaging, it did not slow the progression of renal impairment.
Original Article
Sirolimus and Kidney Growth in Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary kidney disease and the cause of end-stage renal disease in 7 to 10% of all patients undergoing dialysis.– The disease is characterized by the growth of numerous kidney cysts, which leads to progressive…
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- CME
In autosomal dominant polycystic kidney disease (ADPKD), aberrant activation of the mammalian target of rapamycin (mTOR) pathway is associated with progressive kidney enlargement. Sirolimus (rapamycin) suppresses mTOR signaling and was studied in this 18-month open-label, randomized, controlled trial involving adults with ADPKD and early chronic kidney disease. Sirolimus at a daily target dose of 2 mg did not halt polycystic kidney growth.
Correspondence
Prophylactic Eculizumab after Renal Transplantation in Atypical Hemolytic–Uremic Syndrome
To the Editor: Atypical hemolytic–uremic syndrome is a rare microangiopathic hemolytic condition characterized by thrombocytopenia and acute renal failure. The prognosis for patients with atypical hemolytic–uremic syndrome with a factor H mutation is poor; 60% have end-stage renal disease or…
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Original Article
Deficiency of Enzymes Catalyzing the Biosynthesis of Glycerol-Ether Lipids in Zellweger Syndrome — A New Category of Metabolic Disease Involving the Absence of Peroxisomes
ZELLWEGER syndrome is a rare autosomal recessive disorder causing progressive degeneration of the brain, liver, and kidney. In addition to the characteristic facies, elevated liver enzymes, and hypotonia, diagnosis has relied on inconsistent laboratory indexes, such as elevated levels of serum iro…
Medical Progress
Basic and Clinical Concepts Related to Vitamin D Metabolism and Action
(Second of Two Parts) Assays for Vitamin D Metabolites. The basic advances in our understanding of the metabolism and mechanism of action of vitamin D not only are important in physiology and nutrition but have been successfully applied to the study of the pathophysiology of a myriad of metabolic…
Correspondence
Colchicine in Familial Mediterranean Fever
To the Editor: Since colchicine was proposed for preventing the attacks of familial Mediterranean fever, over 350 of our patients have been put on daily maintenance therapy. The 84 patients, 13 with amyloid nephropathy, treated for one to three years have provided tentative answers to some of the…
Medical Intelligence
Current Concepts: Abdominal Mass in the Newborn Infant
ABDOMINAL masses (Table 1) are not uncommon in newborn infants. They can be found in association with any organ system and frequently are of a variety not encountered in older patients or even in older children. Fortunately, malignant tumors are quite uncommon. Most of these lesions should be…
Medical Progress
Immunosuppressive Therapy
(Second of Two Parts) Renal Disease. Despite many years of experience in the treatment of renal disease with cytotoxic agents and corticosteroids, it is at present impossible to arrive at definite conclusions because of the paucity of controlled therapeutic trials. It is discouraging to realize…
Original Article
Congenital and Familial Iron Overload
IT is well known that the newborn infant is endowed with a fairly constant concentration of iron which is approximately 75 mg per kilogram of body weight. The exact reasons for the stability of iron concentration in the neonate are not known. It is thought that both the fetus and placenta play a…
Medical Intelligence
Current Concepts: Neonatal Hypocalcemia — Its Causes and Treatment
CASES of neonatal tetany not due to rickets were reported in the early 1900's. It was only during the last 30 to 40 years, however, that the relation between tetany in the newborn infant and hypocalcemia has been elucidated. Of great importance in delineating some of the factors that lead to the…
Medical Progress
Magnesium Metabolism
Alcoholism. Hypomagnesemia occurs frequently in patients with alcoholism, either in the presence or in the absence of delirium tremens or cirrhosis.93,120, Because of its known sedative effects magnesium sulfate was used empirically to treat delirium tremens.1,1a The discovery of hypomagnesemia in…
Original Article
Hereditary Occurrence of Cystic Disease of the Renal Medulla
CYSTIC disease of the renal medulla is an infrequently recognized disease of the human kidney. Strauss was able to collect 18 cases from the literature and his personal files, and he presented a review of this condition in 1962. The paucity of cases has not permitted a study of the hereditary…
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