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Fanconi renotubular syndrome 2(FRTS2)

MedGen UID:
462002
Concept ID:
C3150652
Disease or Syndrome
Synonym: FRTS2
 
Gene (location): SLC34A1 (5q35.3)
 
Monarch Initiative: MONDO:0013247
OMIM®: 613388

Definition

Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. [from MONDO]

Clinical features

From HPO
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Decreased glomerular filtration rate
MedGen UID:
163428
Concept ID:
C0853068
Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Proximal tubulopathy
MedGen UID:
326534
Concept ID:
C1839603
Disease or Syndrome
Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
Renal phosphate wasting
MedGen UID:
335116
Concept ID:
C1845169
Finding
High urine phosphate in the presence of hypophosphatemia.
Generalized aminoaciduria
MedGen UID:
339863
Concept ID:
C1847868
Finding
An increased concentration of all types of amino acid in the urine.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Osteomalacia
MedGen UID:
14533
Concept ID:
C0029442
Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Elevated circulating parathyroid hormone level
MedGen UID:
167805
Concept ID:
C0857973
Finding
An abnormal increased concentration of parathyroid hormone.
High serum calcitriol
MedGen UID:
1619023
Concept ID:
C4531136
Finding
An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.

Professional guidelines

PubMed

Shi X, Chen Z, Wang J, Wen Y, Zou L, Fei Y, Ye W, Qin Y, Li H, Li M, Li X, Zhang F, Li X, Chen L
Semin Arthritis Rheum 2020 Dec;50(6):1326-1332. Epub 2020 May 15 doi: 10.1016/j.semarthrit.2020.03.017. PMID: 32418614
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
Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN
Pediatr Nephrol 2011 Feb;26(2):205-15. Epub 2010 Aug 24 doi: 10.1007/s00467-010-1627-6. PMID: 20734088Free PMC Article

Recent clinical studies

Etiology

Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188
Thorens B
Diabetologia 2015 Feb;58(2):221-32. Epub 2014 Nov 25 doi: 10.1007/s00125-014-3451-1. PMID: 25421524

Diagnosis

Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188
Thorens B
Diabetologia 2015 Feb;58(2):221-32. Epub 2014 Nov 25 doi: 10.1007/s00125-014-3451-1. PMID: 25421524
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

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
Gitman MD, Hirschwerk D, Baskin CH, Singhal PC
Expert Opin Drug Saf 2007 Mar;6(2):155-64. doi: 10.1517/14740338.6.2.155. PMID: 17367261
Izzedine H, Launay-Vacher V, Isnard-Bagnis C, Deray G
Am J Kidney Dis 2003 Feb;41(2):292-309. doi: 10.1053/ajkd.2003.50037. PMID: 12552490
Alon US
Curr Opin Pediatr 1997 Apr;9(2):160-5. PMID: 9204244

Prognosis

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188
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
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free 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

Clinical prediction guides

Kluck R, Müller S, Jagodzinski C, Hohenfellner K, Büscher A, Kemper MJ, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Kanzelmeyer N, Pavičić L, Haffner D, Zivicnjak M
J Inherit Metab Dis 2022 Mar;45(2):192-202. Epub 2022 Jan 14 doi: 10.1002/jimd.12473. PMID: 34989402
Koudová M, Puchmajerová A
Klin Onkol 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14. PMID: 31409077
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Nielsen R, Christensen EI, Birn H
Kidney Int 2016 Jan;89(1):58-67. doi: 10.1016/j.kint.2015.11.007. PMID: 26759048
Suhasini AN, Brosh RM Jr
Mutat Res 2013 Apr-Jun;752(2):138-152. Epub 2012 Dec 28 doi: 10.1016/j.mrrev.2012.12.004. PMID: 23276657Free PMC Article

Recent systematic reviews

Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Kasimer RN, Langman CB
Pediatr Nephrol 2021 Feb;36(2):223-236. Epub 2020 Feb 3 doi: 10.1007/s00467-020-04487-6. PMID: 32016627
Medic G, van der Weijden M, Karabis A, Hemels M
Curr Med Res Opin 2017 Nov;33(11):2065-2076. Epub 2017 Aug 3 doi: 10.1080/03007995.2017.1354288. PMID: 28692321
Balak DM, Fallah Arani S, Hajdarbegovic E, Hagemans CA, Bramer WM, Thio HB, Neumann HA
Br J Dermatol 2016 Aug;175(2):250-62. Epub 2016 Jul 19 doi: 10.1111/bjd.14500. PMID: 26919824
Phillips RS, Tyerman K, Al-Kassim MI, Picton S
Pediatr Hematol Oncol 2008 Mar;25(2):107-13. doi: 10.1080/08880010701885276. PMID: 18363176

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