Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
STX16
Thrombotic microangiopathies
Urolithiasis

References:

1.

Lania A et al. (2001) G protein mutations in endocrine diseases.

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2.

Cole DE et al. (2000) Inherited disorders of renal magnesium handling.

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3.

Bonny O et al. (2002) Disturbances of Na/K balance: pseudohypoaldosteronism revisited.

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4.

OMIM.ORG article

Omim 103580 [^]
Update: April 29, 2019