Glomerulocystic kidney disease (GCKD) is a cystic disorder of the kidneys. GCKD involves cystic dilation of Bowman's capsule. It can occur with or without congenital abnormality.
Glomerulocystic kidney disease (GCKD) is a renal cystic disease that can be classified in five major groups including familial, familial/sporadic heritable, glomerulocystic kidneys as a component of other cystic disease, sporadic, and acquired. The direct mechanism is not well researched but the main symptom is dilated or enlarged Bowman's capsule with glomerular cysts. The cysts are mostly located on the subscapular area of the renal cortex. Symptoms can vary in each case particularly between age groups. CT and MRI tests are recommended to differentiate and diagnose GCKD. Recovery includes medication to manage hypertensivity, diabetes, and surgery if necessary. Further research must be done to find the direct cause and best treatment plans. There are no alternate names for this disease but it is often misdiagnosed as other related kidney diseases.
Signs and symptoms
Dilation of Bowman's space in the plane section of two to three fold of normal
Kidneys can be described as hypoplastic: meaning kidney have some abnormalities
Size of kidneys can be normal or greatly enlarged depending on the individual case Transcriptional reprogramming: the expression of some genes is elevated and other genes are repressed during transcription Changes in cilia length Cysts in kidneys can be diffuse or clustered and uneven in development Blood vessels can show fibrointimal hyperplasia and luminal narrowing: meaning a layer of the blood vessel called tunica intima may thicken and the blood vessels will have a smaller opening Glomerular tufts collapsed or reduced: can also be described as the network of capillaries in the glomerulus that are the beginning of blood filtration Tubular obstruction possible
There is variation in signs and symptoms depending on the age of onset for GCKD: Cases in neonates or newborn children can present with hypertension, abdominal masses, early onset diabetes, and variable degrees of renal failure also known as kidney failure Cases in adults can present with flank pain or upper abdomen discomfort, hematuria, and hypertension/high blood pressure
Cause
Glomerulocystic kidney disease can be inherited by autosomal dominant inheritance, develop due to urinary tract obstruction, manifest in cell proliferation during organogenesis, and develop through other related kidney diseases. Familial heritable GCKD can be inherited by offspring through adults which can cause GCKD in children or babies.
Medical associations related to main cause: GCKD can be associated with autosomal dominant polycystic kidney disease. It can also be found in a number of patients with the following: Tuberous sclerosis complex medullary cystic kidney disease Jeune syndrome Nephronophthisis Meckel–Gruber syndrome Orofaciodigital syndrome Zellweger syndrome
In addition, GCKD can be a component of renal dysplasia after fetal renal damage such as drug use by the mother.
Mechanism/Pathophysiology
The mechanism of cyst formation in Glomerulocystic kidney disease is not well understood. There is speculated to be a connection to HNF-1ß in familial GCKD which is critical in the development of the kidney, pancreas, and liver. Mutations in the HNF-1ß gene are a cause of renal cystic kidney disease and early onset diabetes However, in nonfamilial GCKD, HNF-1ß may not have a role.
There are a variable amount of glomeruli with dilated Bowman's capsules within patients with GCKD. Tufts of the glomerulus attached to the walls of the capillaries have the possibility to be collapsed or shrunk. The epithelia in the wall of the capsule are also flattened. The enlargement of the kidney can be related to the degree of cyst formation. The cysts which come from the Bowmans space can also cause the kidneys to appear asymmetrical or misshapen. Cysts can cause injury by destroying nearby renal tissue
Familial GCKD can have enlarged or normal size kidneys. Early onset seen in infants can be accompanied with severe renal insufficiency while in adulthood the renal damage can be less severe.