From: Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Family patient ID | Sex | Age at study | Age at definite diagnosis | Country of origin | Phenotype | Other complications, remarks | eGFR (ml/min/1.73m2) or serum creatinine (mg/dl) on last follow up | Deletion alleles (letter code) |
---|---|---|---|---|---|---|---|---|
P1.1 | Male | 31 | 0 | Syria; c | ABS | Destructive gouty arthritis | <15 (age 31 y) | C |
P1.2 | Male | 22 | 0 | Syria; c | ABS | Hyperuricemia | 35 (age 22 y) | C |
P1.3 | Male | 20 | 0 | Syria; c | ABS | Hyperuricemia, seizures (normal EEG) | 70 (age 19 y) | C |
P2 | Female | 46 | nd | UK-Asian | CBS | Short statue | 27 | E |
P3 | Female | 18 | 1 | UK-Asian | CBS | (polyhydramnios, but born 42 wks Presented with critical collapse with multisystem organ failure age 1 y in the context of enteroviral infection | 70 (age 17 y) | E |
P4 | Male | 15 | 7 | UK-Asian | CBS | Childhood, initially presented age 2 y with growth failure, referred to nephrology age 7 y with persistent hypokalaemia | 140 (age 8 y) | A |
P5 | Male | 15 | 8 | UK-black | GS | Childhood, presented age 7 y with abdominal pain and blood tests showed hypokalaemia/hypomagnesaemia | 155 (age 10 y) | F |
P6 | Female | 10 | 3 | UK-Asian | CBS | Childhood, presented age 3 y with growth failure and noted to have hypokalaemia and alkalosis | 180 (age 10 y) | H |
P7 | Female | 32 | ~6 | Italy | CBS, GS | Presented initially in Italy, notes only say that she presented initially as CBS, but then looked more and more like GS, so that BS3 was suspected. | 102 (age 17 y) | B |
P8 | Male | 18 | 2 | Sri Lanka | ABS | Antenatal, (polyhydramnios, born at term), 3 siblings died in infancy of unclear cause in Sri Lanka | 60 (age 17 y) | B |
P9 | Male | 29 | 1 | UK-black | ABS | Antenatal, (27 wk gestation), nephrocalcinosis, nephrotic range proteinuria (first noted age 13), quantified as 3.3 g/d | 67 (age 16 y) | B, F |
P10a | Female | 10 | 1 | UK-white | nd | Born 34 wk (no polyhydramnios) presented age 4 days with weight loss, found to have HSD3B2 deficiency. | 120 (age 1 y) | D |
P11 | Male | nd | 1 | Italy | ABS | Antenatal (polyhydramnios with 4 amnioreductions, born at term), intrauterine growth restriction, birthweight 2130g. In neonatal period noted to have hypoklaemic alkalosis | 95 (age 3 y) | G |
P12 | Female | 17 | 1 | UK-Iranian | ABS | Antenatal (polyhydramnios, but born at term), presented at age 3 months with growth failure and severe electrolyte abnormalities: Na 120, K: 1.0) | 50 (age 17 y) | E |
P13 | Male | 29 | 7 | Iran | CBS | Childhood, pre-school age presentation with growth failure, polyuria, hypokalaemia history of previous fetal loss with polyhydramnios | 15 (creatinine 350, age 18 y) | E |
P14 | Female | 3 | 1 | UK-black | CBS | Presentation age 2 months with growth failure, noticed to have hypokalaemia | 110 (age 3 y) | B, F |
P15.1b | Male | nd | nd | German, f | nd | 5 wk | nd | A |
P15.2b | Male | nd | nd | German, f | nd | Childhood, age 4 years | nd | A |
P16b | Male | nd | nd | Turk, f | nd | 5 wk | nd | nd |
P17b, c | Female | 34 | nd | Turk, c | ABS | Antenatal, (polyhydramnios, born at 28 wks gestation), polyuria, hypokalaemia, metabolic alkalosis, sensorineural deafness, digenic BS 4b | nd | B |
P18 | Female | 29 | 22 mo | Congo, s | CBS | Childhood, pre-school age presentation with growth failure | 90 (age 27 y) | F |
P19 | Female | 27 | 2.5 mo | Turk, c | CBS | Infantile onset | Creatinine 1.3 (age 4.5 y) | nd |
P20 | Male | nd | nd | Turk, c | nd | nd | nd | B |
P21 | Male | 23 | 3 wk | Turk, c | CBS | Antenatal (34 wk gestation) vomiting, hypokalaemic alkalosis | Creatinine 0.9 (age 14 y) | E |
P22 | Male | 21 | 5 mo | Tamil | CBS | Infantile onset, vomiting, hypokalaemic alkalosis | Creatinine 0.3-0.4 (age 1 y) | nd |
P23 | Female | 24 | 9 mo | France, s | CBS | Infantile onset, failure to thrive, polyuria | nd | F |
P24 | Female | 20 | 5 wk | Arabia, c | CBS | Infantile onset | Creatinine 0.4 (age 2 mo) | E |
P25 | Female | 32 | nd | Rwanda, s | nd | nd | nd | nd |
P26 | Female | 19 | 6 mo | Afghanistan, c | CBS | nd | nd | nd |
P27 | Male | 18 | 2 mo | Turk, c | CBS | Failure to thrive | nd | E |
P28 | Female | 16 | nd | Turk, c | ABS | nd | nd | E |
P29 | Female | nd | nd | Turk, c | nd | nd | nd | E |
P30 | Male | nd | nd | Africa, s | CBS | nd | nd | B |