MeSH

Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.

Distention of KIDNEY with the presence of PUS and suppurative destruction of the renal parenchyma. It is often associated with renal obstruction and can lead to total or nearly total loss of renal function.

Year introduced: 2007

A rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with dysmorphic BLADDERS and dilatation of the URETER and RENAL PELVIS. They are at high risk of VESICO-URETERAL REFLUX and may also experience CONSTIPATION or ENCOPRESIS. In addition, affected individuals have a characteristic facial grimace when trying to smile. Mutations in the HPSE2 gene have been identified. OMIM: 236730

Date introduced: August 25, 2010

Date introduced: November 5, 2012

A lethal form of multicystic dysplastic kidney disease that usually presents before birth by ultrasound imaging of the fetus. Both kidneys are large due to multiple cysts and non-functional. It is caused by mutations in the TBX18 gene. OMIM: 143400

Date introduced: August 25, 2010

An autosomal recessive form of Ehlers-Danlos syndrome characterized by craniofacial dysmorphism, congenital CONTRACTURES of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular HYPOTONIA, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Mutations in the CHST14 gene have been identified. OMIM: 601776

Date introduced: September 25, 2015