Pseudohypoaldosteronism type 1

Description

Pseudohypoaldosteronism type 1 (PHA1) are rare forms of mineralocorticoid resistance. PHA1 presents in the newborn with renal salt wasting, failure to thrive and dehydration. Two clinical forms have been described: i) a renal form (renal PHA1) that improves with age and in which mineralocorticoid resistance is restricted to the kidney, and ii) a generalised severe form (generalised PHA1) that persists into adulthood and in which mineralocorticoid resistance is systemic and salt loss occurs in multiple organs. Inheritance can be autosomal recessive (arPHA1) which is more severe and persistent than the autosomal dominant form (AdPHA1)

Index terms

Pseudohypoaldosteronism type 1
Generalised pseudohypoaldosteronism type 1
Renal pseudohypoaldosteronism type 1

Exclusions from above levels

http://id.who.int/icd/entity/1746821938 – Urolithiasis
01 – Certain infectious or parasitic diseases
05 – Endocrine, nutritional or metabolic diseases

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18 – Complications of pregnancy, childbirth and the puerperium
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

GB90.40 – Hypotonia-cystinuria type 1
GB90.42 – Fanconi syndrome
GB90.43 – Bartter syndrome
GB90.44 – Renal tubular acidosis
GB90.45 – Renal glycosuria
GB90.46 – Tubular disorders of sodium or potassium transport
GB90.47 – Aminoaciduria
GB90.48 – Disorders of calcium or phosphate excretion
GB90.49 – Renal hypocalciuria
GB90.4A – Nephrogenic diabetes insipidus
GB90.4Y – Other specified renal tubular function disorders
GB90.4Z – Renal tubular function disorders, unspecified

Foundation entity

Pseudohypoaldosteronism type 1 – http://id.who.int/icd/entity/1576878036

Part of: GB90.4: Renal tubular function disorders › GB90: Certain specified disorders of kidney or ureter › 16: Diseases of the genitourinary system