Table 4.
Renal tubular and metabolic diseases. The leading diagnostic features are polyuria or renal tubular loss of electrolytes, sugar, amino acids or other metabolic findings.
| RENAL TUBULAR DISEASES AND METABOLIC DISEASES | OMIM No. | MOI | Characteristic signs and features | Gene symbol(s), gene product(s) | Tubule segment expressing this transporter/channel |
|---|---|---|---|---|---|
| Renal glucosuria | *182380 #233100 |
AR, AR | Renal glycosuria type A; Renal glycosuria type B, Glu/Gal malabsorption | SLC5A2, SGLT2; SLC5A1, Na/Glu cotransporter SGLT1 | PT |
| Aminoacidurias | (see Table 5) | PT | |||
| Proximal renal tubular acidosis (RTA) | #259730 #604278 |
AR | Proximal RTA with extrarenal abnormalities | CA2, carbonic anhydrase 2; SLCA4A, NaHCO2 cotransporter | PT |
| Hypophosphatemic ricketts | #307800 #241530 |
XD AR |
Vit. D resistant rickets; Vit. D resistant rickets with hyocalciuria | PHEX, endopeptidase; SLC34A3, NaP-cotran., (also FGF23, DMP1) | PT |
| Bartter syndrome types 1–4 | #601678 #241200 #607364 #602522 |
AR | Hypokalemic alkalosis, hypercalcuria, polyuria, growth retardation | SLC12A1, NKCC2; CLCNKB, Clc-Kb; KCNJ1, ROMK; BSND; barttin | mTAL |
| Gitelman syndrome | #263800 | AR | Hypocalciuria, hypomagnesemia, hypotension | SLC12A3; thiazide sensitive NaCl- cotrans. | DCT |
| Hypomagnesemia | #248250 | AR | Hypomagnesemia, NC, CKD, seizures | CLDN16; claudin 16 | DCT |
| Hypomagnesemia | #154020 | AD | Hypomagnesemia, seizures | ATP1G1; FXYD2 | DCT |
| Liddle syndrome | #177200 | AD | Pseudoaldosteronism, hypertension | SCNN1B,G; Na channel gain of function | CD |
| Gordon syndrome (PHA type 2) | #145260 | AD | Pseudohypoaldosteronism type 2, ↑K+, ↑Cl−, acidosis, hypertension | WNK4; WNK1, wnk kinases | CD |
| Pseudohypoaldosteronism type 1 | #264350 ”renal” | AD | Pseudohypoaldosteronism type 1, ↓Na+, ↑K+ | SCNN1A,B,G; Na channel loss of function | CD |
| Pseudohypoaldosteronism type 1 | #264350 ”multiple” | AR | Pseudohypoaldosteronism type 1, ↓Na+, ↑K+ | MLR1; mineralo-corticoid receptor | CD |
| SeSAME syndrome | #612780 | AR | Seizures, SND, ataxia, MR, electrolyte wasting | KCNJ1, K channel | CD |
| Distal renal tubular acidosis (dRTA) | #267300 #602722 |
AR, AR | dRTA, NC, SND, growth failure, osteomalacia | ATP6B1; ATP6N1B, vacuolar ATPase units | CD |
| Distal renal tubular acidosis type I, AD | #179800 | AD | dRTA with hemolytic anemia | SLC4A1; erythrocyte band 3 (AE1) | CD |
| Diabetes insipidus, nephrogenic | #304800 #222000 |
XD AR |
Polyuria, polydipsia | AVPR2, AVP2 receptor AQP2, aquaporin-2 | CD |
| Cystinosis | #219800 | AR | Renal Fanconi syndrome, photophobia, ↓T4 | CTNS, lysosomal membrane protein | Secondary |
| Lowe syndrome | #309000 | XR | Cataract, vit. D-resistent ricketts, MR, RTA, CKD | OLRL1, PIB5PA | Secondary |
| Hemolytic uremic syndrome, atypical | #235400 | AR | Thrombocytopenia, hemolytic anemia, acute renal failure | CFH, complement FH; CFHR1; CFHR3, MCP; ADAMTS13 (aut. dom.) | Secondary |
| Fabry disease | #301500 | XR | Angiokeratoma, FSGS, adult-onset CKD | GLA α-galactosidase A | Secondary |
AD=autosomal dominant, AR=autosomal recessive, CD=collecting duct, CKD=chronic kidney disease, DCT=distal convoluted tubule, MR=mental retardation, NC=nephrocalcinosis, mTAL=medullary thick ascending limb, PT=proximal tubule, secondary=secondary tubulopathy due to cell damage, SND=sensorineural deafness, XD=X-linked dominant, XR=X-linked recessive