Browse Cystic Kidney Disease
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Case Records of the Massachusetts General Hospital
Case 26-2011 — A 7-Year-Old Boy with a Complex Cyst in the Kidney
Presentation of Case. A 7-year-old boy was seen in an outpatient clinic at this hospital because of a complex cyst in the kidney. The patient was born by vaginal delivery after an uncomplicated 38-week gestation. His birth weight was 3.04 kg. A diagnosis of tuberous sclerosis complex (TSC) was made…
- CME
Review Article
Mechanisms of Disease: Ciliopathies
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet–Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies — a recent concept that describes diseases…
- CME
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.
Original Article
COL4A1 Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps
Six alpha chains of type IV collagen — α1(IV) through α6(IV) — produce three networks of type IV collagen: α1.α1.α2(IV), α3.α4.α5(IV), and α5.α5.α6(IV). These three networks are the main component of basement membranes. Alpha chains of type IV collagen consist of an N-terminal 7S…
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The collagen genes COL4A3, COL4A4, and COL4A5 have been implicated in inherited nephropathies. The authors show that glycine mutations in COL4A1, which encodes procollagen type IV α1, result in autosomal dominant hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC). Thus, COL4A1 mutations should be sought in patients who have unexplained familial syndromes with these features.
Clinical Problem-Solving
A Wrinkle in Time
Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to expert clinicians from several specialties, who respond to the information, sharing their reasoning with the reader (regular type). The authors' commentary follows. Stage. An 86-year-old…
An 86-year-old man presented with abdominal discomfort and fever. His medical history was notable for long-standing hypertension, mild chronic renal insufficiency, coronary-artery bypass surgery, repair of an abdominal aortic aneurysm seven years earlier, gout, diverticulitis, and prostatitis.
Clinical Problem-Solving
Jumping to the Wrong Conclusion
Stage. An 82-year-old woman was brought to the emergency department by her daughters because of deterioration in her mental capabilities over a period of three months. She had become increasingly forgetful and occasionally got lost in her own neighborhood. On the morning of her admission, she had…
Correspondence
Hypokalemia, Aldosteronism, and Renal Cysts
To the Editor: In their intriguing report relating hypokalemia to the development of renal cysts, Torres et al. (Feb. 8 issue) note with surprise a positive correlation of plasma renin activity with the extent of cystic involvement and demonstrate that higher plasma renin activity is the only…
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Editorial
Hypokalemic Nephropathy — A Clue to Cystogenesis?
Potassium deficiency has long attracted the attention of both clinicians and physiologists because of its numerous effects on renal function. Since potassium is the most prevalent intracellular cation, it is not surprising that its deficiency results in marked alterations in cell structure and…
Original Article
Association of Hypokalemia, Aldosteronism, and Renal Cysts
RENAL cysts arise from diverticula or segmental dilatations of the renal tubules that develop as part of the normal aging process. Many poorly understood genetic, environmental, and local factors can enhance the development of cysts and thus result in various renal cystic diseases. One such factor…
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Original Article
The Cerebrohepatorenal (Zellweger) Syndrome — Increased Levels and Impaired Degradation of Very-Long-Chain Fatty Acids and Their Use in Prenatal Diagnosis
THE infant with hypotonia and severe neurologic dysfunction or seizures presents a difficult and important problem in differential diagnosis. The condition may be associated with anoxic or ischemic damage, teratogenic agents, infectious diseases, chromosomal disorders, or malformation syndromes due…
Case Records of the Massachusetts General Hospital
Case 16-1982 — Hypotension and Flank Pain in a Man with Chronic Renal Failure
Presentation of Case. A 63-year-old man was admitted to the hospital because of flank pain. He was well until 13 years earlier, when peripheral edema developed. One month later he noticed impaired vision. On the following day he had a grandmal seizure and was brought to the hospital. Physical…
Case Records of the Massachusetts General Hospital
Case 48-1981 — A 27-Year-Old Man with Relentless Renal Failure
Presentation of Case. First admission. A 27-year-old man was admitted to the hospital because of renal disease. There was a long history of bronchial asthma. He was otherwise well until three weeks previously, when fever and malaise developed, followed by bilateral lumbar pain, chills, and dysuria.…
Case Records of the Massachusetts General Hospital
Case 9-1980 — A 46-Year-Old Woman with Two Masses in the Right Kidney
PRESENTATION OF CASE. A 46-year-old woman was admitted to the hospital because of fever and abdominal pain. Except for mild hypertension she was well until five months previously, when her menses ceased. During the two months before admission she complained of hot flashes, sweats, and depression.…
Medical Intelligence
Current Concepts: The Pursuit of the Renal Mass
MODERN radiologic technics of urography often detect asymptomatic renal masses. Even though occult renal masses are now found more frequently, there is no generally agreed upon protocol for distinguishing benign lesions, such as simple cysts, from renal cancers. The purpose of this report is to…
Case Records of the Massachusetts General Hospital
Case 1-1978 — Renal and Pulmonary Lesions in a 33-Year-Old Man with the von Hippel-Lindau Syndrome
Presentation of Case. A 33-year-old man was admitted to the hospital because of painful legs. The patient was known to have the von Hippel-Lindau syndrome. At the age of 14 years a left retinal hemangioma was found. Seven years later a left cerebellar hemangioblastoma was removed at another…
Case Records of the Massachusetts General Hospital
Case 9-1975 — Progressive Renal Failure in a 14-Year-Old Boy
Presentation of Case. A 14-year-old boy was admitted to the hospital because of renal failure. He was well until 19 months previously, when he noticed stiffness and pain in the hips after ice-skating. Investigation revealed azotemia and anemia, and he entered another hospital. As a young child the…
Medical Intelligence
Solitary Intrarenal Cyst Causing Hypertension
UNILATERAL renal cysts are a rare cause of hypertension. There are few published reports of this association in the English or foreign-language literature. In none of these patients has renin activity been measured. We have recently seen an adolescent with hypertension associated with a large…
