Hereditary disorders of renal phosphate wasting

Amir S. Alizadeh Naderi, Robert F. Reilly

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Inherited diseases of renal phosphate handling lead to urinary phosphate wasting and depletion of total body phosphorus stores. Clinical sequelae of inherited disorders that are associated with increased urinary phosphate excretion are deleterious and can lead to abnormal skeletal growth and deformities. This Review describes hereditary disorders of renal phosphate wasting taking into account developments in our understanding of renal phosphate handling from the last decade. The cloning of genes involved in these disorders and further studies on their pathophysiological mechanisms have given important insights in to how phosphatonins, such as FGF-23, regulate renal phosphate reabsorption in health and disease. X-linked dominant hypophosphatemic rickets results from mutation of a metalloprotease (PHEX) that has an unidentified role in FGF-23 degradation. Mutation of an RXXR proteolytic cleavage site in FGF-23 prevents degradation and increases circulating levels of FGF-23 in autosomal dominant hypophosphatemic rickets. FGF-23 acts to remove sodium phosphate co-transporters from the luminal membrane of proximal tubular cells with resultant renal phosphate wasting. Loss of function mutations in genes encoding the transporters NaPi-IIc and NaPi-IIa also result in renal phosphate wasting and rickets.

Original languageEnglish (US)
Pages (from-to)657-665
Number of pages9
JournalNature Reviews Nephrology
Volume6
Issue number11
DOIs
StatePublished - Nov 2010

Fingerprint

Phosphates
Kidney
Mutation
Sodium-Phosphate Cotransporter Proteins
Familial Hypophosphatemic Rickets
Symporters
Rickets
Metalloproteases
Phosphorus
Genes
Organism Cloning
Membranes
Health
Growth

ASJC Scopus subject areas

  • Nephrology

Cite this

Hereditary disorders of renal phosphate wasting. / Alizadeh Naderi, Amir S.; Reilly, Robert F.

In: Nature Reviews Nephrology, Vol. 6, No. 11, 11.2010, p. 657-665.

Research output: Contribution to journalArticle

Alizadeh Naderi, Amir S. ; Reilly, Robert F. / Hereditary disorders of renal phosphate wasting. In: Nature Reviews Nephrology. 2010 ; Vol. 6, No. 11. pp. 657-665.
@article{09371591624c4d7395a536350b072d83,
title = "Hereditary disorders of renal phosphate wasting",
abstract = "Inherited diseases of renal phosphate handling lead to urinary phosphate wasting and depletion of total body phosphorus stores. Clinical sequelae of inherited disorders that are associated with increased urinary phosphate excretion are deleterious and can lead to abnormal skeletal growth and deformities. This Review describes hereditary disorders of renal phosphate wasting taking into account developments in our understanding of renal phosphate handling from the last decade. The cloning of genes involved in these disorders and further studies on their pathophysiological mechanisms have given important insights in to how phosphatonins, such as FGF-23, regulate renal phosphate reabsorption in health and disease. X-linked dominant hypophosphatemic rickets results from mutation of a metalloprotease (PHEX) that has an unidentified role in FGF-23 degradation. Mutation of an RXXR proteolytic cleavage site in FGF-23 prevents degradation and increases circulating levels of FGF-23 in autosomal dominant hypophosphatemic rickets. FGF-23 acts to remove sodium phosphate co-transporters from the luminal membrane of proximal tubular cells with resultant renal phosphate wasting. Loss of function mutations in genes encoding the transporters NaPi-IIc and NaPi-IIa also result in renal phosphate wasting and rickets.",
author = "{Alizadeh Naderi}, {Amir S.} and Reilly, {Robert F.}",
year = "2010",
month = "11",
doi = "10.1038/nrneph.2010.121",
language = "English (US)",
volume = "6",
pages = "657--665",
journal = "Nature Reviews Nephrology",
issn = "1759-507X",
publisher = "Nature Publishing Group",
number = "11",

}

TY - JOUR

T1 - Hereditary disorders of renal phosphate wasting

AU - Alizadeh Naderi, Amir S.

AU - Reilly, Robert F.

PY - 2010/11

Y1 - 2010/11

N2 - Inherited diseases of renal phosphate handling lead to urinary phosphate wasting and depletion of total body phosphorus stores. Clinical sequelae of inherited disorders that are associated with increased urinary phosphate excretion are deleterious and can lead to abnormal skeletal growth and deformities. This Review describes hereditary disorders of renal phosphate wasting taking into account developments in our understanding of renal phosphate handling from the last decade. The cloning of genes involved in these disorders and further studies on their pathophysiological mechanisms have given important insights in to how phosphatonins, such as FGF-23, regulate renal phosphate reabsorption in health and disease. X-linked dominant hypophosphatemic rickets results from mutation of a metalloprotease (PHEX) that has an unidentified role in FGF-23 degradation. Mutation of an RXXR proteolytic cleavage site in FGF-23 prevents degradation and increases circulating levels of FGF-23 in autosomal dominant hypophosphatemic rickets. FGF-23 acts to remove sodium phosphate co-transporters from the luminal membrane of proximal tubular cells with resultant renal phosphate wasting. Loss of function mutations in genes encoding the transporters NaPi-IIc and NaPi-IIa also result in renal phosphate wasting and rickets.

AB - Inherited diseases of renal phosphate handling lead to urinary phosphate wasting and depletion of total body phosphorus stores. Clinical sequelae of inherited disorders that are associated with increased urinary phosphate excretion are deleterious and can lead to abnormal skeletal growth and deformities. This Review describes hereditary disorders of renal phosphate wasting taking into account developments in our understanding of renal phosphate handling from the last decade. The cloning of genes involved in these disorders and further studies on their pathophysiological mechanisms have given important insights in to how phosphatonins, such as FGF-23, regulate renal phosphate reabsorption in health and disease. X-linked dominant hypophosphatemic rickets results from mutation of a metalloprotease (PHEX) that has an unidentified role in FGF-23 degradation. Mutation of an RXXR proteolytic cleavage site in FGF-23 prevents degradation and increases circulating levels of FGF-23 in autosomal dominant hypophosphatemic rickets. FGF-23 acts to remove sodium phosphate co-transporters from the luminal membrane of proximal tubular cells with resultant renal phosphate wasting. Loss of function mutations in genes encoding the transporters NaPi-IIc and NaPi-IIa also result in renal phosphate wasting and rickets.

UR - http://www.scopus.com/inward/record.url?scp=78049369446&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78049369446&partnerID=8YFLogxK

U2 - 10.1038/nrneph.2010.121

DO - 10.1038/nrneph.2010.121

M3 - Article

C2 - 20924400

AN - SCOPUS:78049369446

VL - 6

SP - 657

EP - 665

JO - Nature Reviews Nephrology

JF - Nature Reviews Nephrology

SN - 1759-507X

IS - 11

ER -