# 134600

FANCONI RENOTUBULAR SYNDROME 1; FRTS1


Alternative titles; symbols

FANCONI RENOTUBULAR SYNDROME; FRTS
RENAL FANCONI SYNDROME; RFS
ADULT FANCONI SYNDROME
FANCONI SYNDROME WITHOUT CYSTINOSIS
LUDER-SHELDON SYNDROME


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
15q21.1 Fanconi renotubular syndrome 1 134600 AD 3 GATM 602360
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal dominant
GROWTH
Height
- Short stature (in some patients)
GENITOURINARY
Kidneys
- Proximal renal tubule defect
- Renal tubular acidosis
- Impaired glomerular filtration rate (GFR)
- Fibrosis seen on renal biopsy
- Progressive renal failure
SKELETAL
- Rickets (in some patients)
- Osteomalacia (in some patients)
- Osteopenia (in some patients)
- Bone pain (in some patients)
MUSCLE, SOFT TISSUES
- Muscle weakness
- Muscle cramps
LABORATORY ABNORMALITIES
- Aminoaciduria
- Glucosuria
- Proteinuria
- Phosphaturia
- Hypophosphatemia
- Hypokalemia (in some patients)
MISCELLANEOUS
- Onset early in the first decade
- Later onset has been reported
- Variable phenotype
- Progressive disorder
- Some patients may require renal transplantation
MOLECULAR BASIS
- Caused by mutation in the L-arginine:glycine amidinotransferase gene (GATM, 602360.0006)

TEXT

A number sign (#) is used with this entry because of evidence that Fanconi renotubular syndrome-1 (FRTS1) is caused by heterozygous mutation in the GATM gene (602360) on chromosome 15q21.


Description

Fanconi renotubular syndrome is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by Lichter-Konecki et al., 2001).

Genetic Heterogeneity of Fanconi Renotubular Syndrome

See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13; and FRTS5 (618913), caused by mutation in the NDUFAF6 gene (612392) on chromosome 8q22.


Clinical Features

Smith et al. (1976) described a kindred in which Fanconi syndrome occurred in 4 successive generations and was possibly associated with diabetes mellitus. The proband had hypophosphatemia, renal glycosuria, proteinuria, and generalized amino aciduria. At the age of 22, she developed symptoms of osteomalacia, which responded to treatment with oral phosphate. Her father, who died from diabetes mellitus, had been similarly affected. A sister was affected and at least 7 persons in 3 preceding generations had crippling bone disease and profound muscle weakness of early adult onset. Harrison et al. (1991) reported follow-up of this family, noting that the proband and her sister developed renal glomerular failure.

Brenton et al. (1981) restudied the original family of Dent and Harris (1951, 1956) in which 4 of 5 sibs had Fanconi renotubular syndrome. The 30-year follow-up also showed that lactic aciduria and tubular proteinuria were probably the earliest manifestations of the disorder in childhood, with glycosuria and amino aciduria developing in the second decade, and osteomalacia from the start of the fourth decade. Glomerular function deteriorated slowly, but was compatible with a normal life span. Although affected sibs suggested autosomal recessive inheritance, Brenton et al. (1981) concluded that the inheritance was undoubtedly autosomal dominant.

Luder and Sheldon (1955) and Sheldon et al. (1961) reported a pair of female twins who presented in early childhood with a renal tubular absorption defect. They had generalized aminoaciduria with loss of glucose and phosphate. One of the twins developed rickets in childhood, but responded well to vitamin D and phosphate treatment. Family history revealed that their father and paternal grandfather were mildly affected. A follow-up by Patrick et al. (1981) showed that 3 members had developed renal failure with renal transplant in 1.

Friedman et al. (1978) observed the Fanconi syndrome in father and son from a large family in Wisconsin; a unique feature was progression to early renal failure, requiring renal transplantation in the father.

Wen et al. (1989) and Lichter-Konecki et al. (2001) reported a large family from central Wisconsin with autosomal dominant renal Fanconi syndrome. Affected individuals had variable expressivity of tubular reabsorptive defects. Most of the affected family members developed polyuria and loss of proximal tubular function during the second decade of life and demonstrated significant renal insufficiency by the third decade. The 10 affected family members whose genomes were analyzed had been diagnosed with renal Fanconi syndrome by the following diagnostic criteria: a tubular reabsorption of phosphorus (calculated as maximum rate of tubular absorption of phosphate/glomerular filtration rate) less than 2.5 mg/dl, aminoaciduria, and glucosuria with normal serum glucose. Renal biopsy in 1 patient showed tubular atrophy, interstitial fibrosis, and nephrocalcinosis. At least 1 patient had osteosclerosis of the vertebral bodies.

Long et al. (1990) reported a man with glycosuria, proteinuria, aminoaciduria, phosphaturia, renal acidosis, and generalized bone demineralization. Renal biopsy showed swollen tubular cells with granular vacuolated cytoplasm, flattered epithelial cells, and interstitial fibrosis. Bone biopsy showed osteomalacia. The disorder was progressive, and the patient developed azotemia with progressive renal failure. His young son was similarly affected, suggesting autosomal dominant inheritance.


Inheritance

The transmission pattern of renal Fanconi syndrome in the family reported by Wen et al. (1989) was consistent with autosomal dominant inheritance.

Tolaymat et al. (1992) stated that 10 families with Fanconi syndrome had been described, of which 6 had an autosomal dominant mode of transmission.


Mapping

By a genomewide screen of 24 members of the family with renal Fanconi syndrome reported by Wen et al. (1989), Lichter-Konecki et al. (2001) demonstrated linkage of the disorder to chromosome 15q15.3.


Molecular Genetics

In 28 affected members from 5 unrelated families with FRTS1, Reichold et al. (2018) identified 4 different heterozygous missense mutations at highly conserved residues in the GATM gene (P320S, 602360.0006; T336A, 602360.0007; T336I, 602360.0008; and P34L, 602360.0009). Several of the families had previously been reported (e.g., Sheldon et al., 1961, Harrison et al., 1991, Long et al., 1990, Lichter-Konecki et al., 2001). The mutations, which were found by a combination of linkage analysis and candidate gene sequencing, next-generation gene sequencing, and exome sequencing, were confirmed by Sanger sequencing; the variants segregated with the disorder in all families. In silico modeling suggested that the mutations may adversely affect protein folding and possibly predispose the mutant protein to aggregation. Overexpression of the mutations in renal proximal tubule cells resulted in abnormal and elongated mitochondria containing GATM-positive fibrillary aggregates, similar to the deposits observed in the proximal tubules of patient renal biopsies. Cells transfected with the T336A mutation showed decreased mitochondrial turnover rate, increased reactive oxygen species (ROS), activation of the inflammasome, including elevated IL18 (600953), increased levels of fibronectin and actin mRNA, and increased cell death compared to controls. These findings provided a mechanistic link between kidney fibrosis and progressive renal failure observed in the patients. Examination of Gatm-null mice showed no evidence of aminoaciduria or glycosuria, consistent with no effect on renal proximal tubular function. However, treatment of rats with oral creatine reduced renal Gatm expression and protein levels, suggesting that it could be a possible intervention to suppress the endogenous production of mutant GATM and dampen the formation of deleterious mitochondrial deposits.


Animal Model

Bovee et al. (1978) demonstrated a presumably hereditary Fanconi syndrome in dogs.


History

Ben-Ishay et al. (1961) and Hunt et al. (1966) reported pedigrees consistent with autosomal dominant inheritance of the Fanconi renotubular syndrome. In the family of Hunt et al. (1966), a mother and son had retarded growth, rickets, hypophosphatemia, hypokalemia, acidosis, amino aciduria, proteinuria, and glycosuria, whereas 6 relatives had amino aciduria but no bone disturbance. Autopsy and biopsies showed no cystine deposits in tissues.


See Also:

REFERENCES

  1. Ben-Ishay, D., Dreyfuss, F., Ullmann, T. D. Fanconi syndrome with hypouricemia in an adult: family study. Am. J. Med. 31: 793-800, 1961. [PubMed: 13867012, related citations] [Full Text]

  2. Bovee, K. C., Joyce, T., Reynolds, R., Segal, S. Spontaneous Fanconi syndrome in the dog. Metabolism 27: 45-52, 1978. [PubMed: 619225, related citations] [Full Text]

  3. Brenton, D. P., Isenberg, D. A., Cusworth, D. C., Garrod, P., Krywawych, S., Stamp, T. C. B. The adult presenting idiopathic Fanconi syndrome. J. Inherit. Metab. Dis. 4: 211-215, 1981. [PubMed: 6796773, related citations] [Full Text]

  4. Dent, C. E., Harris, H. The genetics of 'cystinuria'. Ann. Eugen. 16: 60-87, 1951. [PubMed: 24541401, related citations] [Full Text]

  5. Dent, C. E., Harris, H. Hereditary form of rickets and osteomalacia. J. Bone Joint Surg. Br. 38: 204-226, 1956. [PubMed: 13295329, related citations] [Full Text]

  6. Friedman, A. L., Trygstad, C. W., Chesney, R. W. Autosomal dominant Fanconi syndrome with early renal failure. Am. J. Med. Genet. 2: 225-232, 1978. [PubMed: 263440, related citations] [Full Text]

  7. Harrison, N. A., Bateman, J. M., Ledingham, J. G. G., Smith, R. Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature. Clin. Nephrol. 35: 148-150, 1991. [PubMed: 1649711, related citations]

  8. Hunt, D. D., Stearns, G., McKinley, J. B., Froning, E., Hicks, P., Bonfiglio, M. Long-term study of a family with Fanconi syndrome without cystinosis (Detoni-Debre-Fanconi syndrome). Am. J. Med. 40: 492-510, 1966.

  9. Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S. Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. Am. J. Hum. Genet. 68: 264-268, 2001. [PubMed: 11090339, images, related citations] [Full Text]

  10. Long, W. S., Seashore, M. R., Siegel, N. J., Bia, M. J. Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion. Yale J. Biol. Med. 63: 15-28, 1990. [PubMed: 2356624, related citations]

  11. Luder, J., Sheldon, W. A familial tubular absorption defect of glucose and amino-acids. Arch. Dis. Child. 30: 160-164, 1955. [PubMed: 14377624, related citations] [Full Text]

  12. Patrick, A., Cameron, J. S., Ogg, C. S. A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. Clin. Nephrol. 16: 289-292, 1981. [PubMed: 7032774, related citations]

  13. Reichold, M., Klootwijk, E. D., Reinders, J., Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., and 42 others. Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure. J. Am. Soc. Nephrol. 29: 1849-1858, 2018. [PubMed: 29654216, related citations] [Full Text]

  14. Sheldon, W., Luder, J., Webb, B. A familial tubular absorption defect of glucose and amino acids. Arch. Dis. Child. 36: 90-95, 1961. [PubMed: 21032379, related citations] [Full Text]

  15. Smith, R., Lindenbaum, R. H., Walton, R. J. Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance: possible relationship with diabetes mellitus. Quart. J. Med. 45: 387-400, 1976. [PubMed: 948541, related citations]

  16. Tolaymat, A., Sakarcan, A., Neiberger, R. Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. J. Am. Soc. Nephrol. 2: 1310-1317, 1992. [PubMed: 1627757, related citations] [Full Text]

  17. Wallis, L. A., Engle, R. L., Jr. The adult Fanconi syndrome: II. Review of eighteen cases. Am. J. Med. 22: 13-23, 1957. [PubMed: 13381735, related citations]

  18. Wen, S.-F., Friedman, A. L., Oberley, T. D. Two case studies from a family with primary Fanconi syndrome. Am. J. Kidney Dis. 13: 240-246, 1989. [PubMed: 2919605, related citations] [Full Text]


Cassandra L. Kniffin - updated : 06/07/2020
Marla J. F. O'Neill - updated : 4/27/2010
Victor A. McKusick - updated : 1/24/2001
Victor A. McKusick - updated : 2/4/2000
Creation Date:
Victor A. McKusick : 6/4/1986
joanna : 07/01/2020
carol : 06/15/2020
carol : 06/11/2020
ckniffin : 06/07/2020
carol : 05/17/2017
carol : 09/24/2014
alopez : 9/24/2014
mcolton : 9/23/2014
ckniffin : 9/23/2014
carol : 1/17/2014
ckniffin : 1/16/2014
terry : 1/13/2011
carol : 4/27/2010
terry : 6/23/2006
terry : 4/18/2005
mgross : 3/17/2004
tkritzer : 7/25/2003
terry : 7/24/2003
carol : 2/5/2001
carol : 2/5/2001
carol : 1/25/2001
terry : 1/24/2001
mcapotos : 9/8/2000
mcapotos : 2/14/2000
terry : 2/4/2000
mimadm : 9/24/1994
terry : 5/13/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

# 134600

FANCONI RENOTUBULAR SYNDROME 1; FRTS1


Alternative titles; symbols

FANCONI RENOTUBULAR SYNDROME; FRTS
RENAL FANCONI SYNDROME; RFS
ADULT FANCONI SYNDROME
FANCONI SYNDROME WITHOUT CYSTINOSIS
LUDER-SHELDON SYNDROME


SNOMEDCT: 236468006;   ORPHA: 3337;   DO: 0080757;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
15q21.1 Fanconi renotubular syndrome 1 134600 Autosomal dominant 3 GATM 602360

TEXT

A number sign (#) is used with this entry because of evidence that Fanconi renotubular syndrome-1 (FRTS1) is caused by heterozygous mutation in the GATM gene (602360) on chromosome 15q21.


Description

Fanconi renotubular syndrome is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by Lichter-Konecki et al., 2001).

Genetic Heterogeneity of Fanconi Renotubular Syndrome

See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13; and FRTS5 (618913), caused by mutation in the NDUFAF6 gene (612392) on chromosome 8q22.


Clinical Features

Smith et al. (1976) described a kindred in which Fanconi syndrome occurred in 4 successive generations and was possibly associated with diabetes mellitus. The proband had hypophosphatemia, renal glycosuria, proteinuria, and generalized amino aciduria. At the age of 22, she developed symptoms of osteomalacia, which responded to treatment with oral phosphate. Her father, who died from diabetes mellitus, had been similarly affected. A sister was affected and at least 7 persons in 3 preceding generations had crippling bone disease and profound muscle weakness of early adult onset. Harrison et al. (1991) reported follow-up of this family, noting that the proband and her sister developed renal glomerular failure.

Brenton et al. (1981) restudied the original family of Dent and Harris (1951, 1956) in which 4 of 5 sibs had Fanconi renotubular syndrome. The 30-year follow-up also showed that lactic aciduria and tubular proteinuria were probably the earliest manifestations of the disorder in childhood, with glycosuria and amino aciduria developing in the second decade, and osteomalacia from the start of the fourth decade. Glomerular function deteriorated slowly, but was compatible with a normal life span. Although affected sibs suggested autosomal recessive inheritance, Brenton et al. (1981) concluded that the inheritance was undoubtedly autosomal dominant.

Luder and Sheldon (1955) and Sheldon et al. (1961) reported a pair of female twins who presented in early childhood with a renal tubular absorption defect. They had generalized aminoaciduria with loss of glucose and phosphate. One of the twins developed rickets in childhood, but responded well to vitamin D and phosphate treatment. Family history revealed that their father and paternal grandfather were mildly affected. A follow-up by Patrick et al. (1981) showed that 3 members had developed renal failure with renal transplant in 1.

Friedman et al. (1978) observed the Fanconi syndrome in father and son from a large family in Wisconsin; a unique feature was progression to early renal failure, requiring renal transplantation in the father.

Wen et al. (1989) and Lichter-Konecki et al. (2001) reported a large family from central Wisconsin with autosomal dominant renal Fanconi syndrome. Affected individuals had variable expressivity of tubular reabsorptive defects. Most of the affected family members developed polyuria and loss of proximal tubular function during the second decade of life and demonstrated significant renal insufficiency by the third decade. The 10 affected family members whose genomes were analyzed had been diagnosed with renal Fanconi syndrome by the following diagnostic criteria: a tubular reabsorption of phosphorus (calculated as maximum rate of tubular absorption of phosphate/glomerular filtration rate) less than 2.5 mg/dl, aminoaciduria, and glucosuria with normal serum glucose. Renal biopsy in 1 patient showed tubular atrophy, interstitial fibrosis, and nephrocalcinosis. At least 1 patient had osteosclerosis of the vertebral bodies.

Long et al. (1990) reported a man with glycosuria, proteinuria, aminoaciduria, phosphaturia, renal acidosis, and generalized bone demineralization. Renal biopsy showed swollen tubular cells with granular vacuolated cytoplasm, flattered epithelial cells, and interstitial fibrosis. Bone biopsy showed osteomalacia. The disorder was progressive, and the patient developed azotemia with progressive renal failure. His young son was similarly affected, suggesting autosomal dominant inheritance.


Inheritance

The transmission pattern of renal Fanconi syndrome in the family reported by Wen et al. (1989) was consistent with autosomal dominant inheritance.

Tolaymat et al. (1992) stated that 10 families with Fanconi syndrome had been described, of which 6 had an autosomal dominant mode of transmission.


Mapping

By a genomewide screen of 24 members of the family with renal Fanconi syndrome reported by Wen et al. (1989), Lichter-Konecki et al. (2001) demonstrated linkage of the disorder to chromosome 15q15.3.


Molecular Genetics

In 28 affected members from 5 unrelated families with FRTS1, Reichold et al. (2018) identified 4 different heterozygous missense mutations at highly conserved residues in the GATM gene (P320S, 602360.0006; T336A, 602360.0007; T336I, 602360.0008; and P34L, 602360.0009). Several of the families had previously been reported (e.g., Sheldon et al., 1961, Harrison et al., 1991, Long et al., 1990, Lichter-Konecki et al., 2001). The mutations, which were found by a combination of linkage analysis and candidate gene sequencing, next-generation gene sequencing, and exome sequencing, were confirmed by Sanger sequencing; the variants segregated with the disorder in all families. In silico modeling suggested that the mutations may adversely affect protein folding and possibly predispose the mutant protein to aggregation. Overexpression of the mutations in renal proximal tubule cells resulted in abnormal and elongated mitochondria containing GATM-positive fibrillary aggregates, similar to the deposits observed in the proximal tubules of patient renal biopsies. Cells transfected with the T336A mutation showed decreased mitochondrial turnover rate, increased reactive oxygen species (ROS), activation of the inflammasome, including elevated IL18 (600953), increased levels of fibronectin and actin mRNA, and increased cell death compared to controls. These findings provided a mechanistic link between kidney fibrosis and progressive renal failure observed in the patients. Examination of Gatm-null mice showed no evidence of aminoaciduria or glycosuria, consistent with no effect on renal proximal tubular function. However, treatment of rats with oral creatine reduced renal Gatm expression and protein levels, suggesting that it could be a possible intervention to suppress the endogenous production of mutant GATM and dampen the formation of deleterious mitochondrial deposits.


Animal Model

Bovee et al. (1978) demonstrated a presumably hereditary Fanconi syndrome in dogs.


History

Ben-Ishay et al. (1961) and Hunt et al. (1966) reported pedigrees consistent with autosomal dominant inheritance of the Fanconi renotubular syndrome. In the family of Hunt et al. (1966), a mother and son had retarded growth, rickets, hypophosphatemia, hypokalemia, acidosis, amino aciduria, proteinuria, and glycosuria, whereas 6 relatives had amino aciduria but no bone disturbance. Autopsy and biopsies showed no cystine deposits in tissues.


See Also:

Wallis and Engle (1957)

REFERENCES

  1. Ben-Ishay, D., Dreyfuss, F., Ullmann, T. D. Fanconi syndrome with hypouricemia in an adult: family study. Am. J. Med. 31: 793-800, 1961. [PubMed: 13867012] [Full Text: https://doi.org/10.1016/0002-9343(61)90163-2]

  2. Bovee, K. C., Joyce, T., Reynolds, R., Segal, S. Spontaneous Fanconi syndrome in the dog. Metabolism 27: 45-52, 1978. [PubMed: 619225] [Full Text: https://doi.org/10.1016/0026-0495(78)90122-1]

  3. Brenton, D. P., Isenberg, D. A., Cusworth, D. C., Garrod, P., Krywawych, S., Stamp, T. C. B. The adult presenting idiopathic Fanconi syndrome. J. Inherit. Metab. Dis. 4: 211-215, 1981. [PubMed: 6796773] [Full Text: https://doi.org/10.1007/BF02263654]

  4. Dent, C. E., Harris, H. The genetics of 'cystinuria'. Ann. Eugen. 16: 60-87, 1951. [PubMed: 24541401] [Full Text: https://doi.org/10.1111/j.1469-1809.1951.tb02459.x]

  5. Dent, C. E., Harris, H. Hereditary form of rickets and osteomalacia. J. Bone Joint Surg. Br. 38: 204-226, 1956. [PubMed: 13295329] [Full Text: https://doi.org/10.1302/0301-620X.38B1.204]

  6. Friedman, A. L., Trygstad, C. W., Chesney, R. W. Autosomal dominant Fanconi syndrome with early renal failure. Am. J. Med. Genet. 2: 225-232, 1978. [PubMed: 263440] [Full Text: https://doi.org/10.1002/ajmg.1320020303]

  7. Harrison, N. A., Bateman, J. M., Ledingham, J. G. G., Smith, R. Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature. Clin. Nephrol. 35: 148-150, 1991. [PubMed: 1649711]

  8. Hunt, D. D., Stearns, G., McKinley, J. B., Froning, E., Hicks, P., Bonfiglio, M. Long-term study of a family with Fanconi syndrome without cystinosis (Detoni-Debre-Fanconi syndrome). Am. J. Med. 40: 492-510, 1966.

  9. Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S. Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. Am. J. Hum. Genet. 68: 264-268, 2001. [PubMed: 11090339] [Full Text: https://doi.org/10.1086/316923]

  10. Long, W. S., Seashore, M. R., Siegel, N. J., Bia, M. J. Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion. Yale J. Biol. Med. 63: 15-28, 1990. [PubMed: 2356624]

  11. Luder, J., Sheldon, W. A familial tubular absorption defect of glucose and amino-acids. Arch. Dis. Child. 30: 160-164, 1955. [PubMed: 14377624] [Full Text: https://doi.org/10.1136/adc.30.150.160]

  12. Patrick, A., Cameron, J. S., Ogg, C. S. A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. Clin. Nephrol. 16: 289-292, 1981. [PubMed: 7032774]

  13. Reichold, M., Klootwijk, E. D., Reinders, J., Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., and 42 others. Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure. J. Am. Soc. Nephrol. 29: 1849-1858, 2018. [PubMed: 29654216] [Full Text: https://doi.org/10.1681/ASN.2017111179]

  14. Sheldon, W., Luder, J., Webb, B. A familial tubular absorption defect of glucose and amino acids. Arch. Dis. Child. 36: 90-95, 1961. [PubMed: 21032379] [Full Text: https://doi.org/10.1136/adc.36.185.90]

  15. Smith, R., Lindenbaum, R. H., Walton, R. J. Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance: possible relationship with diabetes mellitus. Quart. J. Med. 45: 387-400, 1976. [PubMed: 948541]

  16. Tolaymat, A., Sakarcan, A., Neiberger, R. Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. J. Am. Soc. Nephrol. 2: 1310-1317, 1992. [PubMed: 1627757] [Full Text: https://doi.org/10.1681/ASN.V281310]

  17. Wallis, L. A., Engle, R. L., Jr. The adult Fanconi syndrome: II. Review of eighteen cases. Am. J. Med. 22: 13-23, 1957. [PubMed: 13381735]

  18. Wen, S.-F., Friedman, A. L., Oberley, T. D. Two case studies from a family with primary Fanconi syndrome. Am. J. Kidney Dis. 13: 240-246, 1989. [PubMed: 2919605] [Full Text: https://doi.org/10.1016/s0272-6386(89)80059-9]


Contributors:
Cassandra L. Kniffin - updated : 06/07/2020
Marla J. F. O'Neill - updated : 4/27/2010
Victor A. McKusick - updated : 1/24/2001
Victor A. McKusick - updated : 2/4/2000

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
joanna : 07/01/2020
carol : 06/15/2020
carol : 06/11/2020
ckniffin : 06/07/2020
carol : 05/17/2017
carol : 09/24/2014
alopez : 9/24/2014
mcolton : 9/23/2014
ckniffin : 9/23/2014
carol : 1/17/2014
ckniffin : 1/16/2014
terry : 1/13/2011
carol : 4/27/2010
terry : 6/23/2006
terry : 4/18/2005
mgross : 3/17/2004
tkritzer : 7/25/2003
terry : 7/24/2003
carol : 2/5/2001
carol : 2/5/2001
carol : 1/25/2001
terry : 1/24/2001
mcapotos : 9/8/2000
mcapotos : 2/14/2000
terry : 2/4/2000
mimadm : 9/24/1994
terry : 5/13/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988