U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fanconi renotubular syndrome 5(FRTS5)

MedGen UID:
1711127
Concept ID:
C5394473
Disease or Syndrome
Synonym: FANCONI RENOTUBULAR SYNDROME, ACADIAN VARIANT
 
Gene (location): NDUFAF6 (8q22.1)
 
Monarch Initiative: MONDO:0030056
OMIM®: 618913

Definition

Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). [from OMIM]

Clinical features

From HPO
Lung adenocarcinoma
MedGen UID:
57744
Concept ID:
C0152013
Neoplastic Process
A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Disease or Syndrome
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hypophosphatemic rickets
MedGen UID:
309957
Concept ID:
C1704375
Disease or Syndrome
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Decreased DLCO
MedGen UID:
892993
Concept ID:
C4073175
Finding
Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Hyperchloremic metabolic acidosis
MedGen UID:
369924
Concept ID:
C1969073
Disease or Syndrome
A form of metabolic acidosis with increased serum chloride levels.

Professional guidelines

PubMed

Altintas B, Giri N, McReynolds LJ, Best A, Alter BP
Haematologica 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. PMID: 35417938Free PMC Article
Ring KL, Garcia C, Thomas MH, Modesitt SC
Am J Obstet Gynecol 2017 Nov;217(5):512-521. Epub 2017 Apr 12 doi: 10.1016/j.ajog.2017.04.011. PMID: 28411145
Smith AR, Wagner JE
Expert Rev Hematol 2012 Oct;5(5):513-22. doi: 10.1586/ehm.12.48. PMID: 23146055

Recent clinical studies

Etiology

Li L, Tan W, Deans AJ
Essays Biochem 2020 Oct 26;64(5):807-817. doi: 10.1042/EBC20200001. PMID: 32725171Free PMC Article
Mendoza O, Bourdoncle A, Boulé JB, Brosh RM Jr, Mergny JL
Nucleic Acids Res 2016 Mar 18;44(5):1989-2006. Epub 2016 Feb 15 doi: 10.1093/nar/gkw079. PMID: 26883636Free PMC Article
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Duran M, Loof NE, Ketting D, Dorland L
J Clin Chem Clin Biochem 1990 May;28(5):359-63. PMID: 2199597
Rothstein M, Obialo C, Hruska KA
Endocrinol Metab Clin North Am 1990 Dec;19(4):869-87. PMID: 2081516

Diagnosis

Sturla Álvarez DA, Sánchez Marcos E, de Lucas Collantes C, Cantarín Extremera V, Soto Insuga V, Aparicio López C
Pediatr Neurol 2022 May;130:53-59. Epub 2022 Mar 12 doi: 10.1016/j.pediatrneurol.2022.03.001. PMID: 35364461
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS
Nat Rev Dis Primers 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. PMID: 31537806Free PMC Article
Kitterer D, Schwab M, Alscher MD, Braun N, Latus J
Pediatr Nephrol 2015 Sep;30(9):1407-23. Epub 2014 Nov 5 doi: 10.1007/s00467-014-2958-5. PMID: 25370778
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article

Therapy

Quiroz-Aldave JE, Durand-Vásquez MDC, Chávez-Vásquez FS, Rodríguez-Angulo AN, Gonzáles-Saldaña SE, Alcalde-Loyola CC, Coronado-Arroyo JC, Zavaleta-Gutiérrez FE, Concepción-Urteaga LA, Haro-Varas JC, Concepción-Zavaleta MJ
Expert Rev Anticancer Ther 2024 Jan-Feb;24(1-2):5-14. Epub 2024 Feb 12 doi: 10.1080/14737140.2023.2290196. PMID: 38031874
Sturla Álvarez DA, Sánchez Marcos E, de Lucas Collantes C, Cantarín Extremera V, Soto Insuga V, Aparicio López C
Pediatr Neurol 2022 May;130:53-59. Epub 2022 Mar 12 doi: 10.1016/j.pediatrneurol.2022.03.001. PMID: 35364461
Luni FK, Khan AR, Prashar R, Vetteth S, Duggan JM
Am J Ther 2016 Mar-Apr;23(2):e558-60. doi: 10.1097/MJT.0000000000000095. PMID: 24914503
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Clarke BL, Wynne AG, Wilson DM, Fitzpatrick LA
Clin Endocrinol (Oxf) 1995 Oct;43(4):479-90. doi: 10.1111/j.1365-2265.1995.tb02621.x. PMID: 7586624

Prognosis

Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article
Halperin EC
Int J Radiat Oncol Biol Phys 2000 Apr 1;47(1):171-8. doi: 10.1016/s0360-3016(00)00424-7. PMID: 10758320
Clarke BL, Wynne AG, Wilson DM, Fitzpatrick LA
Clin Endocrinol (Oxf) 1995 Oct;43(4):479-90. doi: 10.1111/j.1365-2265.1995.tb02621.x. PMID: 7586624

Clinical prediction guides

Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M
Pediatr Nephrol 2023 Dec;38(12):3989-3999. Epub 2023 Jul 7 doi: 10.1007/s00467-023-06058-x. PMID: 37415042Free PMC Article
Hall AM, Trepiccione F, Unwin RJ
Pediatr Nephrol 2022 May;37(5):973-982. Epub 2021 May 28 doi: 10.1007/s00467-021-05121-9. PMID: 34050397Free PMC Article
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT
J Bone Miner Res 2018 Oct;33(10):1870-1880. Epub 2018 Jul 20 doi: 10.1002/jbmr.3522. PMID: 29905968
Castilla-Cortazar I, de Ita JR, Aguirre GA, Castorena-Torres F, Ortiz-Urbina J, García-Magariño M, de la Garza RG, Diaz Olachea C, Elizondo Leal MI
Am J Med Sci 2017 May;353(5):425-432. Epub 2017 Feb 4 doi: 10.1016/j.amjms.2017.02.001. PMID: 28502327
Duran M, Loof NE, Ketting D, Dorland L
J Clin Chem Clin Biochem 1990 May;28(5):359-63. PMID: 2199597

Recent systematic reviews

Dos Santos ES, Pérez-de-Oliveira ME, Normando AGC, Gueiros LAM, Rogatto SR, Vargas PA, Lopes MA, da Silva Guerra EN, Leme AFP, Santos-Silva AR
Head Neck 2022 Dec;44(12):2925-2937. Epub 2022 Sep 16 doi: 10.1002/hed.27193. PMID: 36114663

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...