Table 1.

Teaching points (S1–S3)

Clinical diagnosis
A family history compatible with autosomal dominant transmission of the illness, the presence of giant platelets (macrothrombocytopenia), and/or Döhle-like inclusion bodies, sensorineural hearing loss, cataracts, or chronic kidney disease should raise suspicion for MYH9-related disease.

Differential diagnoses for oto-renal syndromes
Clinical syndrome	Manifestations		Gene
	Ear	Kidney
Alport syndrome	Sensorineural hearing loss	Hematuria; kidney failure; ultrastructural changes of the glomerular basement membrane	COL4A3, COL4A4, COL4A5
Alström syndrome	Sensorineural and conductive hearing loss	Glomerulosclerosis, tubular atrophy and interstitial fibrosis; nephrocalcinosis; recurrent urinary tract infections; urethral dysnergia	ALMS1
Autosomal recessive distal renal tubular acidosis	Sensorineural hearing loss	Hypokalaemic hyperchloraemic metabolic acidosis	ATP6V1B1, ATP6V0A4
Bartter syndrome type 4A (or 4B)	Sensorineural hearing loss	Diabetes insipidus; renal salt wasting; kidney failure	BSND (both CLCNKA and CLCNKB)
Branchio-oto-renal (BOR) syndrome	Hearing loss; preauricular pits; auricular malformations; atresia to stenosis of the external auditory canal; underdeveloped cochlea and semicircular canals	Duplications of collecting system; renal hypoplasia; cystic dysplasia and agenesis; hydronephrosis; ureteropelvic junction obstruction; vesicoureteral reflux; basement membrane splitting and mesangial proliferation	EYA1, SIX5, SIX1
Fabry disease	Hearing loss	Glycolipid deposits in glomerular, tubular epithelial and vascular cells; segmental and global glomerulosclerosis; tubular atrophy and interstitial fibrosis; kidney failure	GLA
Hypoparathyroidism, sensorineural deafness, and renal anomalies syndrome (Barakat syndrome)	Sensorineural hearing loss	Congenital anomalies of the kidney and urinary tract (cystic, dysplastic, hypoplastic or aplastic kidneys, pelvicalyceal deformity, vesicoureteral reflux)	GATA3
Kallmann syndrome	Hearing loss	Renal agenesis	ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2
Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)	Hearing loss	Fanconi syndrome; focal segmental glomerulosclerosis; kidney failure	mtDNA point mutations
MYH9-related disease	Sensorineural hearing loss	Hematuria; proteinuria; kidney failure; focal segmental glomerulosclerosis; irregular thinning and thickening of glomerular basement membrane with lamellated and basket-weave appearance	MYH9
Pendred syndrome	Sensorineural hearing loss; enlarged vestibular aqueduct	Acid–base disturbances	SLC26A4
Townes-Brocks syndrome	External ear anomalies; hearing loss	Dysplastic kidneys or agenesis; horseshoe kidney; multicystic kidney; posterior urethral valves; vesicoureteral reflux; kidney failure	SALL1
X-linked hypophosphatemia	Hearing loss	Hypophosphatemia; kidney stone	PHEX