TABLE 1

Mode of inheritance disease	MIM	Gene, protein, function	Segment	Pathophysiology, renal manifestations	Extra-renal manifestations
X-linked
Dent's disease (1) (X-linked recessive nephrolithiasis; X-linked hypophosphatemic rickets; idiopathic low-molecular-weight proteinuria)	300009	CLCN5, ClC-5 Cl-/H+ exchanger	PT, TAL, IC	Trafficking defect, defective endocytosis PT dysfunction, renal Fanconi syndrome Nephrocalcinosis, stones Impaired urine acidification Renal failure	Rickets
Lowe's syndrome (oculo-cerebro-renal syndrome) Dent's disease (2)	309000 300555	OCRL, OCRL1 Phosphatidylinositol 4,5-bisphosphate-5-phosphatase	PT	PT dysfunction, renal Fanconi syndrome Proximal RTA, metabolic acidosis Nephrocalcinosis, stones	Mental retardation, cataract, rickets, cryptorchidism, neuromuscular and behavioral abnormalities, growth delay
Autosomal dominant
Autosomal dominant hypocalcemia (ADH) (Bartter-like syndrome type V)	146200	CASR, CaSR Calcium-sensing receptor	PT, TAL, DCT, CD	Gain-of-function mutations Low serum PTH Hypocalcemia, hypercalciuria Nephrocalcinosis, stones (vitamin D) Salt-losing nephropathy, hypokalemia	Neuromuscular manifestations of hypocalcemia, seizures, basal ganglia calcifications
Distal renal tubular acidosis (dRTA, RTA type I)	179800	SLC4A1, AE1 Cl-/HCO3 - exchanger	IC	Impaired anion exchange in IC Metabolic acidosis, hypercalciuria Nephrocalcinosis, stones	Osteomalacia, rickets, growth retardation
Autosomal recessive
Antenatal Bartter's syndrome type I (hyperprostaglandin E syndrome)	601678	SLC12A1, NKCC2 Na+-K+-2Cl- co-transporter 2	TAL	Profound salt-wasting, polyuria Metabolic alkalosis, hypokalemia Hyperprostaglandinuria Hypercalciuria, nephrocalcinosis	Polyhydramnios, prematurity, fever, vomiting, diarrhea, osteopenia
Antenatal Bartter's syndrome type II (hyperprostaglandin E syndrome 2)	241200	KCNJ1, ROMK K+ channel	TAL, CD	Profound salt-wasting, polyuria Transient (neonatal) hyperkalemia Metabolic alkalosis, hypokalemia Hyperprostaglandinuria Hypercalciuria, nephrocalcinosis	Polyhydramnios, prematurity, Fever, vomiting, diarrhea, osteopenia
Bartter's syndrome type III (classic Bartter's syndrome)	607364	CLCNKB, ClC-Kb Cl- channel	TAL, DCT	Highly variable phenotype Variable calciuria levels, stones	Variable (polyhydramnios)
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC)	248250	CLDN16 (PCLN1), Claudin-16, paracellin-1 Tight junction protein	TAL, DCT	Impaired paracellular transport of calcium and magnesium Calcium and magnesium wasting, renal failure, nephrocalcinosis, stones Incomplete distal tubular acidosis	Convulsions, tetany, chondrocalcinosis, neuromuscular manifestations
Distal renal tubular acidosis (dRTA with progressive nerve deafness)	267300	ATP6V1B1, V1 subunit B1 Subunit of V-ATPase	IC	Impaired urine acidification Metabolic acidosis, kaliuresis Hypercalciuria, nephrocalcinosis, stones	Sensorineural hearing loss, hypokalemic paralysis, rickets, growth impairment
Distal renal tubular acidosis (dRTA with preserved hearing or late onset hearing loss)	602722	ATPV0A4, V0 subunit a4 Subunit of V-ATPase	IC		Normal hearing or late onset sensorineural hearing loss, paralysis, rickets, growth impairment

 CD, collecting duct; DCT, distal convoluted tubule; dRTA, distal renal tubular acidosis; IC, intercalated cell (-type); RTA, renal tubular acidosis; PT, proximal tubule; TAL, thick ascending limb of Henle's loop; V-ATPase, vacuolar H⁺-ATPase.