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Vol. 43. Issue. 6.November - December 2023
Pages 663-806
Vol. 43. Issue. 6.November - December 2023
Pages 663-806
Letter to the Editor
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Knowing the meaning of the words we use: Gitelman’s syndrome or Gitelman’s disease?
Conociendo el significado de las palabras que usamos. ¿Síndrome de Gitelman o enfermedad de Gitelman?
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Víctor M. García-Nietoa,
Corresponding author
vgarcianieto@gmail.com

Corresponding author.
, Elena Lucas-Sáezb, Margarita Monge-Zamoranoc
a Sección de Nefrología Pediátrica, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain
b Unidad de Nefrología Pediátrica, Hospital de Manises, Valencia, Spain
c Pediatría, Centro de Salud de Tacoronte, Tenerife, Spain
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Dear Editor,

Physicians have a great need for words to express the clinical signs and symptoms we observe in the many different forms of illness in our patients, which also need to be named. We need so many words that many of those we use are neologisms or eponyms dedicated to one or more pioneering physicians, whether or not they discovered a new disorder.

In the dictionary of the Real Academia Española [Royal Spanish Academy], the word síndrome [syndrome] is used to designate "a set of symptoms characteristic of a disease or a certain state". This is the case for example with oculo-cerebro-renal syndrome or haemolytic uraemic syndrome. Sometimes, with a single term, the word syndrome is used to designate a basic clinical concept that may be shared by several diseases originating from different causes, as is the case with nephrotic syndrome, for example. Finally, in other situations the term is accompanied by an eponym. This third option is more difficult to conceptualise, as the main symptoms that are characteristic of the disorder are replaced by the surname of an author who, curiously enough, was often not even the first to describe the association (“Stigler’s Law”). Strictly speaking, as a set of characteristic symptoms defines a syndrome, an eponym should not be used to designate it.

Often in daily practice a defining term is used repeatedly without successive authors stopping to check whether or not it is a suitable word. Such is the case, for example, with Bartter and Gitelman syndromes. These are two tubulopathies which could certainly have been united, at the time, as one syndrome characterised by "hypokalaemic alkalosis", but they were not.

In 1962 Bartter et al. described a new syndrome characterised by hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalaemic alkalosis.1 When other authors published new cases of the disease using the surname of the first author of the first paper published, they could have had no idea that they were in fact dealing with five diseases, which have in common a loss of chloride and sodium whose origin is in the thick portion of the ascending limb of the loop of Henle. The use of the term syndrome in this case is debatable, since, as we have said, it is used to bring together "a set of symptoms characteristic of a particular disease or condition", not of five diseases of distinct aetiology. In addition, in other multiple disorders, as in Dent's disease, for example, the term syndrome is not applied. However, in the case of the disorder described by Gitelman et al. in 19662 the use of the term syndrome is certainly inappropriate, as it is a single disease with a clearly established aetiology.

In PubMed, the title or abstract of only seven out of 1804 and 11 out of 942 results read Bartter disease and Gitelman disease respectively, instead of the corresponding eponym accompanied by the word syndrome. However, in some papers published in this journal, the term Bartter disease has been used without being rectified by the Editorial Board at the time.3

In short, medicine in general and our speciality in particular have shown dizzying growth in recent years. Some seemingly inappropriate terms have persisted over time. Perhaps the time has come to reconsider how they are named in some of these cases.

References
[1]
F.C. Bartter, P. Pronove, J.R. Gill Jr., R.C. MacCardle.
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.
Am J Med, 33 (1962), pp. 811-818
[2]
H.J. Gitelman, J.B. Graham, L.G. Welt.
A new familial disorder characterized by hypokalemia and hypomagnesemia.
Trans Assoc Am Physicians, 79 (1966), pp. 221-235
[3]
V. García Nieto, F. Claverie-Martín.
Enfermedad de Bartter con sordera neurosensorial (Bartter tipo IV).
Una entidad descrita hace solo diez años. Nefrología., 25 (2005), pp. 596-601
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