Renal Disorders

6 conditions|2 ABGC-listed

Overview

Genetic kidney diseases include polycystic kidney diseases (most common), basement membrane disorders, and cystine transport defects.

Genetic Kidney Diseases

The polycystic kidney diseases are the most common: ADPKD (adult-onset, PKD1/2, liver cysts, intracranial aneurysms) vs. ARPKD (neonatal, PKHD1, hepatic fibrosis, often severe). Alport is a basement membrane disorder (COL4A5): the triad is hematuria, hearing loss, and eye findings (anterior lenticonus). A key distinction separates cystinosis (lysosomal storage, Fanconi syndrome) from cystinuria (amino acid transport, kidney stones).

Alport syndrome and thin basement membrane nephropathy

A teenage boy with progressive sensorineural hearing loss and anterior lenticonus on eye exam has microscopic hematuria and proteinuria. His maternal uncle is on dialysis. Mother has lifelong asymptomatic microscopic hematuria, a classic carrier presentation.

Autosomal dominant polycystic kidney disease (ADPKD)

ABGC

A 35-year-old presents with hypertension and flank pain. Abdominal ultrasound reveals enlarged kidneys bilaterally with numerous cysts. His father had kidney failure at age 50.

Autosomal recessive polycystic kidney disease (ARPKD)

ABGC

A prenatal ultrasound at 20 weeks reveals bilaterally enlarged, echogenic kidneys and oligohydramnios. After birth, the infant has Potter sequence and congenital hepatic fibrosis.

Cystinosis

A 1-year-old with failure to thrive has polyuria, rickets, and Fanconi syndrome (glucosuria, aminoaciduria, phosphaturia). Slit-lamp exam reveals corneal cystine crystals.

Cystinuria

A 10-year-old boy has recurrent kidney stones. Stone analysis reveals cystine. Urine amino acid analysis shows elevated cystine, ornithine, lysine, and arginine.

Lowe syndrome (oculocerebrorenal syndrome)

A newborn boy has dense bilateral congenital cataracts and severe hypotonia with absent deep tendon reflexes. By 1 year of age, he develops glucosuria, generalized aminoaciduria, and a non-anion-gap metabolic acidosis. On slit-lamp exam, his mother has fine punctate lens opacities but is otherwise unaffected.

Summary Table

Disorder	Gene	Inheritance	Cardinal Features
ADPKD	PKD1/2	AD	Renal/liver cysts, intracranial aneurysms
ARPKD	PKHD1	AR	Neonatal presentation, hepatic fibrosis
Alport	COL4A5	XLD (most)	Hematuria, hearing loss, anterior lenticonus
Cystinosis	CTNS	AR	Fanconi syndrome, corneal crystals
Cystinuria	SLC3A1/SLC7A9	AR	Cystine stones, COLA in urine

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