Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Kidney disease appearing as endocrinological disorders

This is a heterogenous group of hereditary disease resembling endocrinologic disorders but due to hereditary kidney disease.

Test Strategy

Generally such a disorder can be suspected in cases where a discrepancy between clinical data and hormone levels can be found.

Pathogenesis

The receptor, signal transduction or metabolism might be disturbed in these diseases.

Systematic

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Cystic kidney disease
Disorders of tubular solute transport
Hereditary glomerular disease
Hereditary metabolic kidney disease
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
GNAS-AS1
STX16
Thrombotic microangiopathies
Urolithiasis

References:

1.

Leaves NI et al. (2002) A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus.

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2.

Akbari O et al. (2003) Essential role of NKT cells producing IL-4 and IL-13 in the development of allergen-induced airway hyperreactivity.

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3.

Benusiglio PR et. al. (2013) CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

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4.

van der Post RS et. al. (2015) Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.

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Update: Aug. 14, 2020
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