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Books on the topic 'Inherited kidney disease'

Author: Grafiati

Published: 4 June 2021

Last updated: 6 February 2022

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1

Lachmann, Robin, and Elaine Murphy. Inherited metabolic diseases and the kidney. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0334.

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The kidney is affected in a number of inherited metabolic disorders. This chapter focuses on several in which renal disease is usually not the primary clinical manifestation, meaning that there are often other multisystem features and biochemical markers which aid diagnosis. They are rare, but important as early diagnosis and appropriate treatment can often improve outcome.

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2

Sayer, John A. Nephronophthisis and medullary cystic kidney disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0316_update_001.

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The inherited cystic kidney conditions nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) have previously been referred to as a NPHP–MCKD complex. This descriptive term was based on histological studies where the renal pathological features were common to both disorders. Both conditions may also present with insidious renal impairment and a urine concentrating defect, but they are genetically distinct. NPHP is an autosomal recessive disorder leading to established renal failure usually within the first three decades of life, and it is a ciliopathy. In contrast, MCKD is an autos

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3

Herrington, William G., Aron Chakera, and Christopher A. O’Callaghan. Inherited renal diseases. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0169.

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The causes of inherited renal diseases can be divided into cystic, glomerular, tubular, and systemic diseases. By far, the most common of these in clinical practice is adult polycystic kidney disease (APKD). This chapter reviews APKD, other inherited cystic renal diseases, inherited glomerular and tubular diseases, and inherited systemic diseases with renal involvement.

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4

Shrivastava, Seema, Beverley J. Hunt, and Anthony Dorling. Coagulopathies in chronic kidney disease. Edited by David J. Goldsmith. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0135.

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Coagulation abnormalities are common in chronic kidney disease (CKD). Both haemorrhage and thrombosis are more common than in the general population. Haemorrhage, when it occurs, is associated with increased morbidity and mortality compared to that seen in non-uraemic patients. It is more likely spontaneously, but particularly in association with anti-platelet agents or anticoagulants. The increased risk of both arterial and venous thrombosis occurs in part because of the increase prevalence of traditional risk factors for thrombosis in CKD, in part because of the specific problems associated

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5

Sayer, John A. Autosomal dominant tubule-interstitial kidney disease, including medullary cystic disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0318_update_001.

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The term medullary cystic kidney disease (MCKD) describes a group of autosomal dominantly inherited renal disorders. The term MCKD is used interchangeably with other terms, most commonly autosomal dominant interstitial kidney disease, and now may be distinguished using a molecular genetic diagnosis into at least three types. These include MCKD type 1, MCKD type 2 (also known now as uromodulin-associated kidney disease), and REN-associated kidney disease. Each of these types have phenotypic overlap but with a few distinguishing features. MCKD typically leads to end-stage renal failure between 3

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6

Hall, Andrew, and Shamima Rahman. Mitochondrial diseases and the kidney. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0340.

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Mitochondrial disease can affect any organ in the body including the kidney. As increasing numbers of patients with mitochondrial disease are either surviving beyond childhood or being diagnosed in adulthood, it is important for all nephrologists to have some understanding of the common renal complications that can occur in these individuals. Mitochondrial proteins are encoded by either mitochondrial or nuclear DNA (mtDNA and nDNA, respectively); therefore, disease causing mutations may be inherited maternally (mtDNA) or autosomally (nDNA), or can arise spontaneously. The commonest renal pheno

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7

Connor, Thomas, and Patrick H. Maxwell. Von Hippel–Lindau disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0332.

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Von Hippel–Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by germline mutations in the VHL tumour suppressor gene. The most frequent manifestations of VHL disease are retinal and central nervous system haemangioblastomas, clear cell renal cell carcinomas, and phaeochromocytomas. Genetic testing and active screening for clinical manifestations is now started in childhood and has greatly improved the prognosis for patients with VHL disease. The VHL protein plays a critical role in regulating the cellular response to changes in oxygen tension. Loss of VHL function

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8

Sebastio, Gianfranco, Manuel Schiff, and Hélène Ogier de Baulny. Lysinuric Protein Intolerance and Hartnup Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0025.

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Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progr

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9

Pirson, Yves, and Olivier Devuyst. The adult with renal cysts. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0304.

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Cysts in children are unusual except in the context of congenital or inherited disease, but simple cysts become more common with age. So do the cysts of the most common inherited renal disease, autosomal dominant polycystic kidney disease, so number of cysts, age, family history, and associated findings are all relevant. Localization and size, shape of cysts may point to other diagnoses as discussed in this chapter.

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10

Jolly, Elaine, Andrew Fry, and Afzal Chaudhry, eds. Renal medicine. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0017.

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Chapter 17 covers the basic science and clinical topics relating to ophthalmology which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers renal basic science, pathophysiology of renal disease, the kidney as an 'endocrine' organ, renal investigations, acute kidney injury, chronic kidney disease/renal failure, renal replacement therapy, renal transplantation, haemodialysis, peritoneal dialysis, nephrotic syndrome, primary glomerular causes of nephrotic syndrome/proteinuria, rapidly progressive glomerulonephritis, IgA nephropathy, mesangiocapill

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11

Jafri, Mariam, and Eamonn R. Maher. Genetics and molecular biology of renal cancer. Edited by James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0084.

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Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of in

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12

H, Morgan Stephen, and Grunfeld Jean-Pierre, eds. Inherited disorders of the kidney: Investigation and management. Oxford University Press, 1998.

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13

(Editor), Steven H. Morgan, and Jean-Pierre Grunfeld (Editor), eds. Inherited Disorders of the Kidney: Investigation and Management (Oxford Clinical Nephrology Series). Oxford University Press, USA, 1998.

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14

Dalbeth, Nicola. Genetic basis of hyperuricaemia and gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198748311.003.0004.

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Owing to the different means of ascertaining prevalence between studies, it is difficult to compare prevalence across countries. Country-specific studies that collect data with the same methodology show that the prevalence of gout is increasing. Factors that influence the prevalence of gout are inherited genetic factors and environmental exposures. Some foods that increase serum urate levels and trigger acute gouty arthritis are risk factors—red meat and beer are the best established, but seafood and sugar-sweetened beverages also increase serum urate levels and are strong anecdotal triggers o

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15

Grant, Robert. Neurocutaneous syndromes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0235.

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This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart

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