How are the Organs Affected in Adults with CdLS?

How are the Organs Affected in Adults with CdLS?

Organ involvement in adults with CdLS is similar to that seen in children with CdLS. Heart defects are common in CdLS and around 1 in 4 children with CdLS are born with a heart condition. These are usually detected in infancy or childhood. Typically, heart defects do not cause unexpected complications in adulthood. A small number of individuals with CdLS may have hypertension (high blood pressure) or heart failure (where the heart is unable to pump blood around the body properly) (²,⁷³). A very small number of individuals with CdLS have been reported to have a heart attack or stroke (⁷³).

It has been identified that a number of individuals with CdLS have structural differences in their kidneys. Even so, kidney failure has only been reported in 1% of individuals with CdLS (⁷³). The kidneys are responsible for filtering waste products from the blood, alongside regulating blood pressure, electrolyte balance and red blood cell production. When there are structural differences in the kidneys, they may not be able to function properly. Kidney function should be monitored regularly in children and adults with CdLS who have structural kidney malformations (R23).

Prostate enlargement has been found in 10% of men with CdLS by the age of 41 years. The prostate is a small gland located between the penis and the bladder. Enlargement of the prostate can cause difficulty with urination. Prostate enlargement is common in men aged over 50 in the general population (⁷⁵). Prostate enlargement in men with CdLS should be assessed earlier and treated according to national guidelines for the general population (R24).

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Jul 2018

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Last modified by Gerritjan Koekkoek on 2022/09/29 16:10

Created by Gerritjan Koekkoek on 2019/03/27 15:09