Wolcott–Rallison syndrome

Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings.

Here, the Albanian population is also known for consanguineous marriages, but there were some cases involving patients from non-consanguineous parents that were carriers for the same mutant allele.

[citation needed] The EIKF2AK3 gene codes for PERK (pancreatic endoplasmic reticulum kinase), an explanation for the spectrum of symptoms.

[1] The other features include multiple epiphyseal dysplasia, osteopenia, intellectual disability, and hepatic and renal dysfunction.

[9] In infants and very young children long-acting insulins like Glargine and Levemir are preferred to prevent recurrent hypoglycemia.

[10] As soon as Walcott-Rallison syndrome is the diagnosis, therapy plans need to be drawn up along with frequent checkups to monitor kidney and liver function and adjust insulin treatment.

[4] In the few cases that develop hypothyroidism, treatment with thyroxine is indicated, with the target to maintain normal circulating thyroid stimulating hormone (thyrotropin) concentrations.