Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary diseases have to be considered in the differential diagnosis of many kidney diseases. The kidney can be affected by systemic metabolic diseases such as primary hyperoxaluria or Fabry's disease. Inborn errors of the coagulation cascade or the complement system may cause familiar forms of the hemolytic uremic syndrome. Of central interest are hereditary cystic kidney diseases with autosomal dominant polycystic kidney disease as its most prominent example. Hereditary forms of the nephrotic syndrome are usually caused by abnormalities of podocyte function. Alport's syndrome is a classical example of a basement membrane disease. Of special interest are hereditary defects in tubular transport mechanisms such as carrier defects affecting sodium reabsorption along the tubulus.
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PMID:[Pathogenesis and clinical course of hereditary nephropathies]. 1147 6

The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to about 30% of chronic renal diseases in children, and significantly to many other kidney disorders. This paper covers briefly the new genetic technologies, the benefits of genetic testing, and the indication for genetic testing in various kidney disorders. It covers SRNS, congenital anomalies of the kidney, cystic kidney disease, tubulopathies, nephronophthisis, Fabry disease, Alport and Lowe syndrome. Atypical hemolytic uremic syndrome, renal tubular acidosis and nephrolithiasis are also covered briefly. It is hoped that this paper will encourage the pediatricians to investigate monogenic disorders of the kidney as it helps in their proper classification, informs prognosis, suggests specific treatment and aids in genetic and reproductive counseling.
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PMID:Genetic Testing in Pediatric Kidney Disease. 3205 92