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Fanconi renotubular syndrome 3(FRTS3)

MedGen UID:
816430
Concept ID:
C3810100
Disease or Syndrome
Synonym: FRTS3
 
Gene (location): EHHADH (3q27.2)
 
Monarch Initiative: MONDO:0014275
OMIM®: 615605

Definition

Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). [from OMIM]

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Hyperphosphaturia
MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
An increased excretion of phosphates in the urine.
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.
Low-molecular-weight proteinuria
MedGen UID:
333360
Concept ID:
C1839606
Finding
Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
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).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.

Professional guidelines

PubMed

Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
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

Recent clinical studies

Etiology

Nguyen JL, Ho CA
JBJS Rev 2022 Mar 1;10(3) doi: 10.2106/JBJS.RVW.21.00147. PMID: 35230999
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
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
Tonini G, Tatò L, Rigon F, Radetti G, De Sanctis C, De Sanctis V, Buzi F, Bozzola M, Bona G, Bernasconi S
Minerva Pediatr 2004 Feb;56(1):125-31. PMID: 15249924
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

Diagnosis

Nasr SH, Kudose S, Javaugue V, Harel S, Said SM, Pascal V, Stokes MB, Vrana JA, Dasari S, Theis JD, Osuchukwu GA, Sathick IJ, Das A, Kashkouli A, Suchin EJ, Liss Y, Suldan Z, Verine J, Arnulf B, Talbot A, Sethi S, Zaidan M, Goujon JM, Valeri AM, Mcphail ED, Sirac C, Leung N, Bridoux F, D'Agati VD
Kidney Int 2023 Mar;103(3):616-626. Epub 2022 Dec 26 doi: 10.1016/j.kint.2022.11.026. PMID: 36581019
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
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
Tonini G, Tatò L, Rigon F, Radetti G, De Sanctis C, De Sanctis V, Buzi F, Bozzola M, Bona G, Bernasconi S
Minerva Pediatr 2004 Feb;56(1):125-31. PMID: 15249924
González-del Angel A, Cervera M, Gómez L, Pérez-Vera P, Orozco L, Carnevale A, Del Castillo V
Am J Med Genet 2000 Jan 31;90(3):252-4. doi: 10.1002/(sici)1096-8628(20000131)90:3<252::aid-ajmg14>3.3.co;2-m. PMID: 10678666

Therapy

Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A
Nature 2022 Dec;612(7940):495-502. Epub 2022 Nov 30 doi: 10.1038/s41586-022-05253-4. PMID: 36450981Free PMC Article
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
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Veys KR, Besouw MT, Pinxten AM, Dyck MV, Casteels I, Levtchenko EN
Acta Clin Belg 2016 Jun;71(3):131-7. doi: 10.1179/2295333714Y.0000000113. PMID: 25560059
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

Prognosis

Kumar B, Prabhakar R, Thangavelu S
J R Coll Physicians Edinb 2020 Sep;50(3):291-294. doi: 10.4997/JRCPE.2020.316. PMID: 32936106
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
Veys KR, Besouw MT, Pinxten AM, Dyck MV, Casteels I, Levtchenko EN
Acta Clin Belg 2016 Jun;71(3):131-7. doi: 10.1179/2295333714Y.0000000113. PMID: 25560059
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
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

Clinical prediction guides

Koudová M, Puchmajerová A
Klin Onkol 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14. PMID: 31409077
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
Kleta R, Bockenhauer D
J Am Soc Nephrol 2018 Mar;29(3):727-739. Epub 2017 Dec 13 doi: 10.1681/ASN.2017060600. PMID: 29237739Free PMC Article
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
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

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
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
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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