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Fanconi-like syndrome

MedGen UID:
56237
•Concept ID:
C0151638
•
Disease or Syndrome
Synonym: Immunologic deficiency, pancytopenia, and cutaneous malignancies
SNOMED CT: Fanconi-like syndrome (236469003)
 
Monarch Initiative: MONDO:0009217
OMIM®: 227850

Definition

A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [from MONDO]

Clinical features

From HPO
Multiple cutaneous malignancies
MedGen UID:
870389
•Concept ID:
C4024834
•
Neoplastic Process
See: Feature record | Search on this feature
Pancytopenia
MedGen UID:
18281
•Concept ID:
C0030312
•
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
See: Feature record | Search on this feature
Recurrent lower respiratory tract infections
MedGen UID:
756211
•Concept ID:
C3163798
•
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
See: Feature record | Search on this feature
Multiple bilateral pneumothoraces
MedGen UID:
870645
•Concept ID:
C4025099
•
Disease or Syndrome
See: Feature record | Search on this feature
Osteomyelitis
MedGen UID:
10497
•Concept ID:
C0029443
•
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.
Chen YT
Pediatr Nephrol 1991 Jan;5(1):71-6. doi: 10.1007/BF00852851. PMID: 2025544

Recent clinical studies

Etiology

Reliability of calcium-phosphorus (Ca/P) ratio as a new, accurate and inexpensive tool in the diagnosis of some Ca-P disorders.
Madeo B, De Vincentis S, Kara E, Vescini F, Trenti T, Guaraldi G, Rochira V
J Endocrinol Invest 2019 Sep;42(9):1041-1049. Epub 2019 Feb 22 doi: 10.1007/s40618-019-01025-6. PMID: 30796757
Aminoglycoside-induced nephrotoxicity studied by proton magnetic resonance spectroscopy of urine.
Tzovaras V, Tsimihodimos V, Kostara C, Mitrogianni Z, Elisaf M
Nephrol Dial Transplant 2011 Oct;26(10):3219-24. Epub 2011 Mar 3 doi: 10.1093/ndt/gfr074. PMID: 21372252
Nephrolithiasis in a worker with cadmium exposure in the past.
Trevisan A, Gardin C
Int Arch Occup Environ Health 2005 Sep;78(8):670-2. Epub 2005 Oct 12 doi: 10.1007/s00420-005-0009-z. PMID: 16001205
A prospective evaluation of ifosfamide-related nephrotoxicity in children and young adults.
Ho PT, Zimmerman K, Wexler LH, Blaney S, Jarosinski P, Weaver-McClure L, Izraeli S, Balis FM
Cancer 1995 Dec 15;76(12):2557-64. doi: 10.1002/1097-0142(19951215)76:12<2557::aid-cncr2820761223>3.0.co;2-9. PMID: 8625085
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.
Chen YT
Pediatr Nephrol 1991 Jan;5(1):71-6. doi: 10.1007/BF00852851. PMID: 2025544

Diagnosis

Deferasirox-induced liver injury and Fanconi syndrome in a beta-thalassemia major male.
Fraser J, Brook R, He T, Lewis D
BMJ Case Rep 2020 Jul 9;13(7) doi: 10.1136/bcr-2020-234542. PMID: 32646935Free PMC Article
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Mazurova S, Tesarova M, Zeman J, Stranecky V, Hansikova H, Baxova A, Giertlova M, Lastuvkova J, Chovanova V, Rusnakova S, Knapkova M, Minarik G, Honzik T, Magner M
J Dermatol 2020 Jun;47(6):663-668. Epub 2020 Apr 6 doi: 10.1111/1346-8138.15317. PMID: 32250467
Reliability of calcium-phosphorus (Ca/P) ratio as a new, accurate and inexpensive tool in the diagnosis of some Ca-P disorders.
Madeo B, De Vincentis S, Kara E, Vescini F, Trenti T, Guaraldi G, Rochira V
J Endocrinol Invest 2019 Sep;42(9):1041-1049. Epub 2019 Feb 22 doi: 10.1007/s40618-019-01025-6. PMID: 30796757
Aminoglycoside-induced nephrotoxicity studied by proton magnetic resonance spectroscopy of urine.
Tzovaras V, Tsimihodimos V, Kostara C, Mitrogianni Z, Elisaf M
Nephrol Dial Transplant 2011 Oct;26(10):3219-24. Epub 2011 Mar 3 doi: 10.1093/ndt/gfr074. PMID: 21372252
A prospective evaluation of ifosfamide-related nephrotoxicity in children and young adults.
Ho PT, Zimmerman K, Wexler LH, Blaney S, Jarosinski P, Weaver-McClure L, Izraeli S, Balis FM
Cancer 1995 Dec 15;76(12):2557-64. doi: 10.1002/1097-0142(19951215)76:12<2557::aid-cncr2820761223>3.0.co;2-9. PMID: 8625085

Therapy

Tenofovir as a cause of acquired fanconi's syndrome.
Simon M, Meah A
Ann Afr Med 2023 Jan-Mar;22(1):128-130. doi: 10.4103/aam.aam_198_21. PMID: 36695235Free PMC Article
Deferasirox-induced liver injury and Fanconi syndrome in a beta-thalassemia major male.
Fraser J, Brook R, He T, Lewis D
BMJ Case Rep 2020 Jul 9;13(7) doi: 10.1136/bcr-2020-234542. PMID: 32646935Free PMC Article
Aminoglycoside-induced reversible tubular dysfunction.
Alexandridis G, Liberopoulos E, Elisaf M
Pharmacology 2003 Mar;67(3):118-20. doi: 10.1159/000067797. PMID: 12571406
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.
Chen YT
Pediatr Nephrol 1991 Jan;5(1):71-6. doi: 10.1007/BF00852851. PMID: 2025544
Fanconi-like syndrome. Immunologic deficiency, pancytopenia, and cutaneous malignancies.
Abels D, Reed WB
Arch Dermatol 1973 Mar;107(3):419-23. doi: 10.1001/archderm.107.3.419. PMID: 4692131

Prognosis

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Mazurova S, Tesarova M, Zeman J, Stranecky V, Hansikova H, Baxova A, Giertlova M, Lastuvkova J, Chovanova V, Rusnakova S, Knapkova M, Minarik G, Honzik T, Magner M
J Dermatol 2020 Jun;47(6):663-668. Epub 2020 Apr 6 doi: 10.1111/1346-8138.15317. PMID: 32250467
Reliability of calcium-phosphorus (Ca/P) ratio as a new, accurate and inexpensive tool in the diagnosis of some Ca-P disorders.
Madeo B, De Vincentis S, Kara E, Vescini F, Trenti T, Guaraldi G, Rochira V
J Endocrinol Invest 2019 Sep;42(9):1041-1049. Epub 2019 Feb 22 doi: 10.1007/s40618-019-01025-6. PMID: 30796757
Unusual manifestation of crystalline light chain tubulopathy in patient with multiple myeloma: case report and review of the literature.
Stompór T, Perkowska-Ptasińska A, Wojciechowska M, Zając K, Chmielewska-Badziąg A, Pawłowska A
Ren Fail 2014 Jun;36(5):795-9. Epub 2014 Feb 10 doi: 10.3109/0886022X.2014.884446. PMID: 24512271
Aminoglycoside-induced nephrotoxicity studied by proton magnetic resonance spectroscopy of urine.
Tzovaras V, Tsimihodimos V, Kostara C, Mitrogianni Z, Elisaf M
Nephrol Dial Transplant 2011 Oct;26(10):3219-24. Epub 2011 Mar 3 doi: 10.1093/ndt/gfr074. PMID: 21372252
Nephrolithiasis in a worker with cadmium exposure in the past.
Trevisan A, Gardin C
Int Arch Occup Environ Health 2005 Sep;78(8):670-2. Epub 2005 Oct 12 doi: 10.1007/s00420-005-0009-z. PMID: 16001205

Clinical prediction guides

T-20 and adefovir for salvage therapy -- expect no miracles.
Gilden D
GMHC Treat Issues 1998 Apr;12(4):6-7. PMID: 11365400
A prospective evaluation of ifosfamide-related nephrotoxicity in children and young adults.
Ho PT, Zimmerman K, Wexler LH, Blaney S, Jarosinski P, Weaver-McClure L, Izraeli S, Balis FM
Cancer 1995 Dec 15;76(12):2557-64. doi: 10.1002/1097-0142(19951215)76:12<2557::aid-cncr2820761223>3.0.co;2-9. PMID: 8625085

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