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Items: 9

1.

Hyperproreninemia, familial

MedGen UID:
864799
Concept ID:
C4016362
Finding
2.

Hyperuricemic nephropathy, familial juvenile, 2

Autosomal dominant tubulointerstitial kidney disease, REN-related (ADTKD-REN) (previously familial juvenile hyperuricemic nephropathy type 2 [FJHN2]) is characterized by: hypoproliferative anemia with low hemoglobin concentrations, found in most affected children by age one year; hyperuricemia and gout, found in most (not all) affected individuals; and slowly progressive chronic tubulointerstitial kidney disease. Some affected children have polyuria (excessive urine production leading to frequent urination) and enuresis. Mildly elevated serum creatinine concentration and reduced estimated glomerular filtration rate in an asymptomatic child often progresses to end-stage renal disease in the fourth to sixth decades of life. Of note, information on only 14 families with this condition has been published; better understanding of the disease is likely to emerge when more families are described. [from GeneReviews]

MedGen UID:
414347
Concept ID:
C2751310
Disease or Syndrome
3.

Crohn disease, association with

MedGen UID:
409995
Concept ID:
C1970129
Finding
4.

Microvascular complications of diabetes 3

MedGen UID:
390806
Concept ID:
C2675470
Finding
5.

Severe acute respiratory syndrome, progression of

MedGen UID:
354854
Concept ID:
C1862877
Finding
6.

Susceptibility to progression to renal failure in IgA nephropathy

MedGen UID:
349625
Concept ID:
C1862886
Finding
7.

Angiotensin i-converting enzyme, benign serum increase

MedGen UID:
349623
Concept ID:
C1862874
Finding
8.

STROKE, ISCHEMIC, SUSCEPTIBILITY TO

MedGen UID:
347320
Concept ID:
C1856857
Finding
9.

Renal dysplasia

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. [from OMIM]

MedGen UID:
82738
Concept ID:
C0266313
Disease or Syndrome
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