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

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

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

4.	OMIM.ORG article Omim 103580