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Familial juvenile hyperuricemic nephropathy type 1(ADTKD1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: ADTKD1; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; Medullary cystic kidney disease 2; Medullary cystic kidney disease 2, autosomal dominant; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; UMOD-Associated Kidney Disease; Uromodulin-associated kidney disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): UMOD (16p12.3)
Monarch Initiative: MONDO:0008073
OMIM®: 162000
Orphanet: ORPHA88950

Disease characteristics

Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time. [from GeneReviews]
Anthony J Bleyer  |  Kendrah Kidd  |  Martina Živná, et. al.   view full author information

Additional descriptions

Autosomal dominant tubulointerstitial kidney disease-1 (ADTKD1) is an adult-onset slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. Some patients may develop gouty arthritis, arterial hypertension, polydipsia/polyuria, or mild proteinuria. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported. Renal ultrasound may show small or hyperechogenic kidneys. Renal biopsy shows variable abnormalities, including tubular atrophy, interstitial fibrosis, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. The median age at onset of end-stage renal disease (ESRD) is 56 years (range 50-65). There is significant inter- and intrafamilial variability, as well as incomplete penetrance, which hampers diagnosis (summary by Hart et al., 2002, Ayasreh et al., 2018, and Devuyst et al., 2019). Genetic Heterogeneity of Autosomal Dominant Tubulointerstitial Kidney Disease ADTKD2 (174000) is caused by mutation in the MUC1 gene (158340) on chromosome 1q22; ADTKD3 (137920) is caused by mutation in the HNF1B gene (189907) on chromosome 17q12; ADTKD4 (613092) is caused by mutation in the renin gene (REN; 179820) on chromosome 1q32; and ADTKD5 (617056) is caused by mutation in the SEC61A1 gene (609213) on chromosome 3q21. See 614227 for a possibly distinct form of ADTKD tentatively mapped to chromosome 2p22.1-p21.  http://www.omim.org/entry/162000
From MedlinePlus Genetics
Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family.

Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In this condition, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. The signs and symptoms of gout may appear as early as a person's teens in uromodulin-associated kidney disease.

Uromodulin-associated kidney disease causes slowly progressive kidney disease, with the signs and symptoms usually beginning during the teenage years. The kidneys become less able to filter fluids and waste products from the body as this condition progresses, resulting in kidney failure. Individuals with uromodulin-associated kidney disease typically require either dialysis to remove wastes from the blood or a kidney transplant between the ages of 30 and 70. Occasionally, affected individuals are found to have small kidneys or kidney cysts (medullary cysts).  https://medlineplus.gov/genetics/condition/uromodulin-associated-kidney-disease

Clinical features

From HPO
Kidney disorder
MedGen UID:
Concept ID:
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Decreased glomerular filtration rate
MedGen UID:
Concept ID:
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Renal insufficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Renal tubular atrophy
MedGen UID:
Concept ID:
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
MedGen UID:
Concept ID:
Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of inflammation affecting the kidney.
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormally high level of uric acid in the blood.

Professional guidelines


Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Recent clinical studies

Clinical prediction guides

Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T
Ren Fail 2018 Nov;40(1):146-151. doi: 10.1080/0886022X.2018.1450757. PMID: 29569962Free PMC Article

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