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. 2018 Apr 13;12(2):180–187. doi: 10.1093/ckj/sfy027

Table 1.

Clinical and molecular details of the 33 patients with identified causative mutations

Genetic details
 Clinical details
Nucleotide Protein Sex At presentation
 At last follow-up
 Meds Remarks (complications/ comorbidities)
Age (years) Plasma osmolality (mOsm/kg) eGFR (mL/min/ 1.73 m2) Uosm after DDAVP (mOsm/kg) Weight SDS Height SDS Age (years) Weight SDS Height SDS eGFR (mL/min/ 1.73 m2)
Patients with mutations in AVPR2
1 c.851G>A p.(Trp284*) M 0.25 304 43 65 −2.62 −1.25 11.9 −0.02 −1.68 90 Indomethacin, thiazide Feeding difficulty, esophagitis
2.1 c.999dup p.(Ser334Leufs*23) M 0.016 300 44 73 −0.44 0.51 15.3 −1.03 −1.16 76 Indomethacin, thiazide Transient hydronephrosis, large bladder, PVR, constipation
2.2 c.999dup p.(Ser334Leufs*23) M 0.021 310 34 53 0.84 0.89 16.7 −0.34 −0.53 75 Indomethacin, thiazide Hydronephrosis, constipation
2.3 c.999dup p.(Ser334Leufs*23) M 0.08 310 45 50 0.73 −1.06 17 0.08 −1.13 77 Indomethacin, thiazide ADHD, impaired concentration, mild hydronephrosis
2.4 c.999dup p.(Ser334Leufs*23) M 0.16 307 38 89 −0.87 −0.54 17 −0.01 −0.86 65 Indomethacin, thiazide Mild hydronephrosis, migraine
3 c.871C>T p.(Glu291*) M 0.83 304 54 111 0.91 −0.76 16.3 0.29 −0.89 79 Indomethacin, thiazide
4 c.27_54del p.(Val10Cysfs*18) M 0.3 301 43 129 −3.01 −0.86 14.1 1.49 0.92 76 Indomethacin, thiazide Transient hydronephrosis, growth hormone deficiency, impaired concentration
5 c.299del p.(Lys100Argfs*16) M 0.58 325 44 40 2.61 −2.02 11.8 0.74 −0.7 72 Indomethacin, thiazide Constipation
6 c.332T>C p.(Leu211Pro) M 0.66 354 34 197 −4.08 −3.19 14.2 1.11 −2.4 106 Indomethacin, thiazide Constipation
7.1 c.262G>A p.(Val88Met) M 2 294 83 570 −2.8 −2.87 1 −0.51 −0.37 81 Indomethacin, thiazide Hydronephrosis, large bladder, PVR, constipation
7.2 c.262G>A p.(Val88Met) M 0.04 292 26 63 −1.88 −1.59 10 −0.27 0.01 92 Indomethacin, thiazide ADHD, impaired concentration/school performance
8 c.316C>T p.(Arg106Cys) M 2.9 294 140 173 −1.78 −1.56 17 0.31 0.97 85 Indomethacin, thiazide
9 c.809_810del p.(Val270Glyfs*86) M 0.5 319 69 173 −3.38 −2.25 10 0.19 0.66 95 Indomethacin, thiazide Mild hydronephrosis, constipation
10.1 c.316C>T p.(Arg106Cys) M 7 298 63 50 0.9 0.45 15 0.37 0.27 70 Indomethacin, thiazide Hydronephrosis, large bladder, PVR, PUV with left VUR
10.2 c.316C>T p.(Arg106Cys) M 9 N/A 89 220 1.39 0.62 14 0.82 −0.78 80 Indomethacin, thiazides Hydronephrosis, constipation
11.1 c. (-1069_1007) del ins168 p.? M 0.15 320 54 114 −0.96 −1.17 9 1.57 −0.38 66 Indomethacin, thiazide
11.2 c.(-1069_1007) del ins168 p.? M 0.5 328 41 179 −2.66 −0.33 5 0.92 −0.68 67 Indomethacin, amiloride, thiazide ADHD, impaired concentration
12 c.del970 p.(Ile324Serfs*112) M 8 298 69 55 2.6 1.59 17 0.92 −1.42 56 Thiazide Hydronephrosis, single kidney, large bladder + PVR
13 c.491G>A p.(W146X) M 1.83 277 103 44 −2.55 −2.13 15 0.7 0.23 86 Indomethacin, thiazide Large bladder, PVR, ADHD, dyslexia mild hydronephrosis
14 c.357G>C p.(Glu119His) M 0.16 359 45 50 −2.25 −1 4 −0.98 −1.54 91 Indomethacin, thiazides
15 c.599G>A p.(Trp200*) M 1.66 290 102 147 −1.98 −1.02 3 1.64 1.3 114 Indomethacin, thiazide, amiloride Transient neurological impairment associated with acute hypernatraemia
16 c.604C>T p.(Arg202Cys) M 0.58 287 111 76 −2.83 −0.33 2.2 −1.65 −3.5 90 Amiloride, thiazide
17 c.(?-1) _(*1_?) del p.? M 0.03 337 49 185 0.34 0.89 0.83 −1.06 −0.76 89 Celecoxib, thiazide
18 c.348C>G p.(Lys116Asn) M 0.91 298 73 95 −4.47 −4.02 3.6 −1.89 −4.15 81 Indomethacin, thiazide, amiloride IUGR, necrotizing enterocolitis
19 c.830T>C p.(Val277Ala) M 8 338 41 73 2.2 1.9 16 2.3 2.1 83 Indomethacin, thiazide
20 c.332T>C p.(Leu111Pro) M 0.01 293 95 65 −2.42 −1.06 6.1 1.43 0.34 66 Celecoxib, thiazide, amiloride Rhomboencephalo-synapsis
Patients with mutations in AQP2
21 c.377C>T p.(Thr126Met) M 0.58 354 62 95 −2.8 −2.97 13 0.23 −0.9 60 Indomethacin, thiazide Global developmental delay
22 c.253C>T p.(Arg85*) M 3.6 304 85 177 1.49 −1.86 17 3.06 −1.39 81 Ibuprofen, thiazide Left hydronephrosis with 10% divided function, large bladder, PVR
23.1 c.337C>T p.(Arg113Cys) F 0.33 340 45 158 −2.83 −2.23 7.9 −2.58 −2.85 67 Indomethacin, thiazide Constipation
23.2 c.337C>T p.(Arg113Cys) F 0 280 52 114 −2.55 −1.33 3 −2.75 −1.72 97 Indomethacin, thiazide Constipation
24 c.211G>A p.(Val71Met) F 0.25 350 69 158 −2.1 −0.59 16 1.54 −1.67 72 Indomethacin, thiazide Hydronephrosis
25 c.299G>T/ c.763C>T p.(Gly100Val)/ p.(Gln255*) M 6.5 284 50 86 −4.65 −2.02 10.5 −1.51 −3.02 84 Celecoxib
26 c.211G>A p.(Val71Met) M 1.75 295 107 100 −8.25 −4.94 5 −1.92 −1.32 129 Indomethacin, thiazide Mild hydronephrosis, constipation

Shown are pertinent molecular and clinical details. Mutations in AQP2 are all homozygous, except for Patient 25, who is compound heterozygous.

‘?’ is standard genetic annotation for Unknown.

Uosm, urine osmolality; PUV, posterior urethral valves; VUR, vesico-ureteric reflux; IUGR, intra-uterine growth retardation.