MOJ ISSN: 2475-5494 MOJWH

Women's Health
Short Communication
Volume 3 Issue 3 - 2016
FANCONI: The Word Creating Fuss-Anemia or Syndrome - A Physician’s Dilemma
Murtaza Kamal1* and Meera Jindal2
1Department of Pediatrics, Safdarjung Hospital & Vardhman Mahavir Medical College, India
2Department of Obstetrics & Gynaecology, Safdarjung Hospital & Vardhman Mahavir Medical College, India
Received: December 21, 2016 | Published: December 29, 2016
*Corresponding author: Murtaza Kamal, Department of Obstetrics & Gynaecology, Safdarjung Hospital & Vardhman Mahavir Medical College, C-196 (3rd Floor), Shaheen Bagh, Jamia Nagar, New Delhi-110025, Tel: +91-9971259799; Email:
Citation: Kamal M, Jindal M (2016) FANCONI: The Word Creating Fuss-Anemia or Syndrome - A Physician’s Dilemma. MOJ Womens Health 3(3): 00070. DOI: 10.15406/mojwh.2016.03.00070

Short Communication

Fanconi anemia and syndrome have been the misnomers always since these terms have been coined. The two terms seem to be very closely related but both have very varied etilogies and signs and symptoms [1]. Fanconi anemia as a term way coined way back in 1927 by the famous Swiss pediatrician Guido Fanconi. This is an autosomal recessive disorder with incidence of approximately 3 in 1,000,000 [2]. This disease is a constillation of heriditary bone marrow failure, physical abnormalities and hyper pigmentation along with increased risk of malignancies. The basic pathophysiology lies in the increase in the chromosomal breakage, which leads to multisystem involvement [2,3]. The marrow failure starts in the first 10 years of life and it progresses to peak upto 40-50 years of life. Approximately a third of these patients have malignancies with are not only hematological butare also non-hematological [4]. Physical abnormalities range from hyperpigmentation, short strature to malformations of the extremities.

On the other hand, Fanconi syndrome was first described way back two decades before Fanconi anemia by Abdelhalden, though the term wasn’t coined at the hat time. It is basically a defect of proximal renal tubule and Guido Fanconi, on whose name we know the syndrome today as, reported 7 cases of this syndrome and called it as "Nephrotic-glycosuric dwarfism with hypophosphetemic rickets"[5]. It later came to be known as Fanconi syndrome due to a number of cases reported by Fanconi. This is a condition which is both heriditary and aquired (autosomal recessive). The basic pathophysiology in this case is the diminished absorption of the solutesby the proximal renal tubules. The patient presents with hypophosphatemic rickets, secondary growth failure, polyurea, glycosuria, acidosis etc [6]. The complications in this case occur mainly as an after effect of renal dysfunction. So, it’s the need of the hour to be clear on these two so similarly looking terms and use these with utmost care.


  1. Ossama M, Hatel R (2016) Fanconi anemia and Fanconi syndrome: Time to correct the misnomers. J Pediatr Hematol Oncol. 38(7): 585.
  2. Swift M (1971) Fanconi's anemia in the genetics of neoplasia. Nature 230: 370-73.
  3. Joenje H, Patel KJ (2001) The emerging genetic and molecular basis of Fanconi anemia. Nat Rev Genet 2(6): 446-457.
  4. Tischkowitz MD, Hodgson SV (2003) Fanconi anemia. J Med Genet 40(1): 1-10.
  5. Fanconi G (1936) Die nichit diabeteishen glykosurien und hyperlykamien des altern kinds. Jahrb Kindererheilkd 133: 257-300.
  6. Takashi I (2016) Pediatric Fanconi syndrome Pediatric Nephrology, (7th edn). Berlin Heidelberg Springer, USA.
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