Rogers Syndrome

Classification according to ICD-10
Q21.0	Ventricular septal defect
ICD-10 online (WHO version 2019)

The Rogers syndrome is a very rare congenital disease with the main features of a megaloblastic (form of anemia) with diabetes mellitus and sensorineural deafness .

Synonyms are: English Thiamine-Responsive Megalobastic Anemia Syndrome; TRMA; Thiamine Metabolism Dysfunctionm Syndrome 1; THMD1; Thiamine-Responsive Anemia Syndrome; Thiamine-Responsive Myelodysplasia

The name refers to the first author of the first description from 1969 by Lon E. Rogers and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in SLC19A - gene on chromosome 1 locus q24.2 basis which for Thiam intra Sporter 1 coded. Disturbances in this gene can lead to a lack of TC1 and thus to a form of megaloblastic anemia.

Clinical manifestations

Clinical criteria are:

Onset of illness in early childhood
Megaloblastic anemia treatable with thiamine
progressive hearing loss
Diabetes mellitus requiring insulin
no further signs of thiamine deficiency

diagnosis

The diagnosis is based on the clinical findings and is confirmed by a bone marrow aspiration and possibly a human genetic examination .

Differential diagnosis

The following are to be distinguished:

therapy

Treatment is by administration of thiamine, otherwise symptomatic.

literature

L. Crouzet-Ozenda Luci, S. De Smet, F. Monpoux, C. Ferrero-Vacher, F. Giuliano, N. Sirvent: Galactosémie congénitale associée à un syndrome de Rogers chez une petite fille de 10 mois. In: Archives de Pédiatrie: organe officiel de la Société francaise de pédiatrie , Volume 18, No. 1, January 2011, pp. 54-57, doi: 10.1016 / j.arcped.2010.10.013 , PMID 21177082 .
D. Baron, YG Assaraf, S. Drori, A. Aronheim: Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. In: European Journal of Biochemistry , Volume 270, No. 22, November 2003, pp. 4469-4477, PMID 14622275 .

Web links

Genetics Home Reference

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss. In: Orphanet (Rare Disease Database).
^ FS Porter, LE Rogers, JB Sidbury: Thiamine-responsive megaloblastic anemia. In: The Journal of pediatrics , Vol. 74, No. 4, April 1969, pp. 494-504, PMID 5767338 .
↑ Thiamine-responsive megaloblastic anemia syndrome. In: Online Mendelian Inheritance in Man . (English)

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss. In: Orphanet (Rare Disease Database).

[3] FS Porter, LE Rogers, JB Sidbury: Thiamine-responsive megaloblastic anemia. In: The Journal of pediatrics , Vol. 74, No. 4, April 1969, pp. 494-504, PMID 5767338 .

[4] Thiamine-responsive megaloblastic anemia syndrome. In: Online Mendelian Inheritance in Man . (English)