Renal Tubular Disorders


Kidney diseases that derive from the malfunction of the tubular portion of the renal nephron comprising the proximal tubule, loop of Henle, distal tubule and collecting ducts. These diseases can be common or rare and may have genetic or nongenetic causes and include cystic kidney diseases as well as disease caused by abnormalities of tubule ion transport.

Keywords: cystic diseases; ADPKD; ARPKD; fanconi syndrome; renal tubular acidosis; genes

Figure 1.

(a) Schematic drawing of normal nephron segments. PCT, proximal convoluted tubule; PST, proximal straight tubule (pars recta); ThDL, thin descending limb of Henle loop; ThAL, thin ascending limb of Henle loop; TAL, thick ascending limb of Henle loop; DCT, distal convoluted tubule; CNT, connecting tubule; CCT, cortical collecting tubule; OMCT, outer medullary collecting tubule; IMCT, inner medullary collecting tubule. (b) Sites of cystic origin in autosomal dominant polycystic kidney disease (ADPKD). (c) Sites of cystic origin in autosomal recessive polycystic kidney disease (ARPKD).

Figure 2.

Schematic drawing of segmental reabsorption and secretion along the human nephron. ADH, antidiuretic hormone.

Figure 3.

Schematic drawing of some transporter proteins affected in diseases of (a) the proximal tubule epithelial cell, (b) the thick ascending limb of the loop of Henle epithelial cell, (c) the principal epithelial cell of the cortical collecting tubule, and (d) the intercalated epithelial cell of the cortical collecting tubule. Ad cyc, adenosine cyclase; ADP, adenosine diphosphate; ATP, adenosine triphosphate; AVP, arginine vasopressin; AQP2, aquaporin 2; PKA, protein kinase A.


Further Reading

The European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77(6): 881–894.

Hildebrandt F, Otto E, Rensing C et al. (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nature Genetics 17(2): 149–153.

Karet FE, Finberg KE, Nelson RD et al. (1999) Mutations in the gene encoding B1 subunit of H+‐ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 21(1): 84–90.

Mochizuki T, Wu G, Hayashi T et al. (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339–1342.

Piwon N, Gunther W, Schwake M et al. (2000) ClC‐5 Cl−‐channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408(6810): 369–373.

Rosenthal W, Seibold A, Antaramian A et al. (1992) Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 359(6392): 233–235.

Simon DB, Karet FE, Hamdan J et al. (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na‐K‐2Cl cotransporter NKCC2. Nature Genetics 13(2): 183–188.

Simon DB, Karet FE, Rodriguez‐Soriano J et al. (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature Genetics 14(2): 152–156.

Simon DB, Nelson‐Williams C, Bia M et al. (1996) Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide‐sensitive Na–Cl cotransporter. Nature Genetics 12(1): 24–30.

Ward CJ, Hogan MC, Rossetti S et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor‐like protein. Nature Genetics 30(3): 259–269.

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How to Cite close
Wilson, Patricia D(Mar 2004) Renal Tubular Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0002123]