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Hyperuricemic nephropathy, familial juvenile type 4(ADTKD5)

MedGen UID:: 934708
•Concept ID:: C4310741
•: Disease or Syndrome

Synonyms:	ADTKD5; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5

Gene (location): Gene(s) directly associated with this condition or phenotype.	SEC61A1 (3q21.3)

Monarch Initiative:	MONDO:0014891
OMIM®:	617056

Definition

Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016). For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000). [from OMIM]

Clinical features

From HPO

Focal segmental glomerulosclerosis

MedGen UID:: 4904
•Concept ID:: C0017668
•: Disease or Syndrome

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

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Kidney disorder

MedGen UID:: 9635
•Concept ID:: C0022658
•: Disease or Syndrome

A nonspecific term referring to disease or damage of the kidneys.

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Chronic kidney disease

MedGen UID:: 473458
•Concept ID:: C1561643
•: Disease or Syndrome

Functional anomaly of the kidney persisting for at least three months.

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Renal cyst

MedGen UID:: 854361
•Concept ID:: C3887499
•: Disease or Syndrome

A fluid filled sac in the kidney.

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Vascular dilatation

MedGen UID:: 8076
•Concept ID:: C0002940
•: Pathologic Function

Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.

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Fetal growth restriction

MedGen UID:: 4693
•Concept ID:: C0015934
•: Pathologic Function

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Anemia

MedGen UID:: 1526
•Concept ID:: C0002871
•: Disease or Syndrome

A reduction in erythrocytes volume or hemoglobin concentration.

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Gout

MedGen UID:: 42280
•Concept ID:: C0018099
•: 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.

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Recurrent infections

MedGen UID:: 65998
•Concept ID:: C0239998
•: Finding

Increased susceptibility to infections.

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Neutropenia

MedGen UID:: 163121
•Concept ID:: C0853697
•: Finding

An abnormally low number of neutrophils in the peripheral blood.

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Elevated circulating creatinine concentration

MedGen UID:: 148579
•Concept ID:: C0700225
•: Finding

An increased amount of creatinine in the blood.

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Hyperuricemia

MedGen UID:: 149260
•Concept ID:: C0740394
•: Disease or Syndrome

An abnormally high level of uric acid in the blood.

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Abnormality of blood and blood-forming tissues
- Anemia
Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
- Hyperuricemia
Abnormality of the cardiovascular system
- Vascular dilatation
Abnormality of the genitourinary system
Abnormality of the immune system
- Neutropenia
- Recurrent infections
Abnormality of the musculoskeletal system
- Gout
Growth abnormality
- Fetal growth restriction
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial juvenile gout
- CROGVFamilial juvenile hyperuricemic nephropathy type 1
- CROGVFamilial juvenile hyperuricemic nephropathy type 2
- CROGVHyperuricemic nephropathy, familial juvenile type 3
- CROGVHyperuricemic nephropathy, familial juvenile type 4
- CROGVRenal cysts and diabetes syndrome

Familial juvenile gout
- Hyperuricemic nephropathy, familial juvenile type 4

Professional guidelines

PubMed

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

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

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Recent clinical studies

Utami SB, Mahati E, Li P, Maharani N, Ikeda N, Bahrudin U, Munemura C, Hosoyamada M, Yamamoto Y, Yoshida A, Nakayama Y, Higaki K, Nanba E, Ninomiya H, Shirayoshi Y, Ichida K, Yamamoto K, Hosoya T, Hisatome I
Clin Exp Nephrol 2015 Aug;19(4):576-84. Epub 2014 Sep 20 doi: 10.1007/s10157-014-1032-8. PMID: 25239792

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