Register of analbuminemia cases

(Only reported cases are listed; subjects with (SA) > 1 g/L are included only if the value was confirmed by immunochemical analysis, if both parents appeared to be heterozygous, or if analbuminemia was demonstrated upon genetic analysis)
#  Init. Sex DOB Age Location [SA] g/L [TP] g/L [Tchol] mg/dL1 Consanguinity DNA sequence2 Symptoms 1st author & year of 1streport Notes
 Rpt Dth
1 F.B. F 1922 31 69 Tubingen, FRG 0.016 46 493 + + Edema, fatigue, lipodystropy Bennhold – 1954 Died, ovarian cancer (Kallee-1996)
2 K.B. M 1932 23 59 Tubingen, FRG >0.06 53 498 + + None Bennhold – 1954 Brother of case #1, died, colonic cancer (Kallee-1996)
3 G.M. F 1923 29 70 Bethesda, MD, USA 0.24 48 410 + + Edema, lipodystropy Bartter – 1959 ? Cause of death
4 H.G. M 1930 29 Lausanne, Switerland 0.10 45 430 + – Edema Beck – 1959
5 J.L. M 1894 62 68 Okla.City, USA 0.03 52 340 – – Edema Shetlar – 1959
6 J.M. M 1944 21 Ljubljan, Yugoslavia 1.20 54 434 ? – Edema Mahkota – 1965
7 A.M. F 1908 34 55 Belfast, UK 0.10 44 400 – – Edema, lipodystropy Montgomery – 1966 Died, pneumonia
8 I.Y. F 1911 14 London, UK 0.38 50 394 + – Edema, lipodystropy Freeman – 1971
9 A.M. M 1948 21 Okayama, Japan <0.01 50 346 + – Low BP Arimori – 1970
10 R.R. F 1942 29 Perugia, Italy 0.05 51 643 + +
Roma mutation		 Fatigue Fabiani – 1971 2 children
11 R.U. M 1935 37 75 Perugia, Italy 0.03 54 414 + – None Fabiani – 1971 Brother of case #10, died, cardiac failure
12 H.A. M 1954 15 Kablia, Algeria 0.12 56 290 + – Edema Irunberry – 1971
13 K.A. M 1956 13 Kablia, Algeria 0.68 59 330 + – None Irunberry – 1971  Sibling of case #12
14 Z.A. F 1959 10 Kablia, Algeria 0.05 63 >400 + – None Irunberry – 1971  Sibling of case #12
15 – M 1973 1 mo Vancouver, Canada 0.052 47 268 + + Edema Cormode – 1975
16 J.S. F 1961 12 32 Seattle, USA (AmIndian) 0.17 55 258 + + Fainting Boman – 1976
17 S.K. M 1974 6 mo Le Havre, France (Algerian) 0.064 51 301 + – Edema Goulle – 1976
18 M.E. M 1937 39 Codogno, Italy 0.05 51 405 – + Headache DiGuardo – 1977
19 J.J. F 1960 17 Barcelona, Spain 5.50 ? 55 454 – – None Carretero – 1978 Parents low [SA]
20 S.F. F 1948 30 Bari, Italy 0.052 60 286 – – None Dammacco – 1979
21 M.C. F 1926 54 Nantes, France 0.265 54 348 + – None Sagniez – 1982
22 M.E. M 1922 60 Zurich, Switzerland 0.017 63 315 – – Edema, lipodystropy Weigand – 1983
23 P.G. M 1973 3 da Roma-2, Italy 1.0 32 442 ? +
Hetero-zygous for Roma-2 and Fondi mutations		 Edema Papi – 1983 Severe arterial dysfunction (Del Ben -2013)
24 C.K. F 1937 43 Basingstoke, UK 2.70 56 452 – – Edema, fatigue, lipodystropy Platt – 1985 4 children
25 H.B. M 1975 10 Port Elizabeth, S. Africa 0.081 49 282 ? – Edema Berger – 1985
26 – F 1968 18 Vilnose, USSR 0.34 49 440 ? – Edema Belokrinitskaia- 1985 2 pregnancies
27 D.N. ? 1998 1 da Saskatoon, Canada <0.01 43 268 ? +
Kayseri mutation		 None Lyon – 1998 “Infant A”
28 K.B. F 1988 2 da Saskatoon, Canada <0.01 36 – ? – None Lyon – 1998
29 – F 2000 1 da Nijmegen, Netherlands <0.001 42 225 ? – Infections, incr. ESR Monnens – 2000
30 – F 1977 23 Schwyz, Switzerland 2.0 51 344 ? +
Bethesda mutation		 Lipodystrophy Gossi – 2000
one analbuminemic brother, not studied		 Recurrent hypoglicemia Litzel – 2020 (ref. 58)
31 – F 1978 17 Kayseri, Turkey 0.2 49 430 + + Lipodystrophy Kuhn-Velten – 2001 Ultrasound-assisted lipoplasty
32  A.K. M 1940 61 S. Africa 1.4 66 522 – +
Undefined mutation		 Lipodystrophy Burgess – 2001
33 – M 2002 1 wk Baghdad, Iraq 1.1 – 364 + + Edema Campagnoli – 2002
34 – F 2001 5 wk Saskatoon, Canada <10 – – + +
Kayseri mutation		 Diarrhea, tetany Galliano – 2002 “Infant B”
35 – M 1971? 30 Trabzon, Turkey 5.0 – – + +
Kayseri mutation		 Edema Galliano – 2002
36 – F 1971 29 Saskatoon, Canada 2.0 61 227 + – Lipodystrophy, cellulitis Newstead – 2004
37 – F 2000 2 wk El Jadida, Morocco <0.006 37 327 + + Neonatal edema Koot – 2004
38 – M 2004 9 mo Zurich-2, Switzerland <2.0 35 730 ? +
Bethesda mutation		 Neonatal edema Campagnoli – 2005 Steroid-sensitive idiopathic nephrotic syndrome (Neuhaus-2008)
39 – M 2003 3 Proprad, Slovakia 0.16 58 278 ? +
Kayseri mutation		 Min. edema Campagnoli – 2006
40 – M 2002 4 Proprad, Slovakia 0.22 56 339 ? +
Kayseri mutation		 Min. edema Campagnoli – 2006 Brother of case #39
41 – M 2001 5 Proprad, Slovakia 0.17 54 313 ? +
Kayseri mutation		 Min. edema Campagnoli – 2006 Brother of case #39
42 L.P. M 1972 34 Locust Valley, NY, USA 0.003 48 376 ? + Edema Peters T Jr -2006 Paraplegic for 17 years
43 –  F 2006 1 Bartin, Turkey 9.0  40 499 – + Min. edema Dolcini – 2007
44 –  M 1975 23 Goteborg, Sweden 0.019 – 638 ? +
Kayseri mutation		 None Campagnoli – 2008 One daughter
45 –  M 2007 3.5 mo Zonguldak, Turkey 9.1  50 201 – + Edema Caridi –  2008
46 –  M 1994 14 Jerusalem, Israel 1.3  54 360 + +
Kayseri mutation		 Edema Becker-Cohen  2009 Acute
glomerulonephritis
47 –  F 1978 30 Jerusalem, Israel 0.9  52 372 + +
Kayseri mutation		 Edema Becker-Cohen  2009 Sister of case #46, hyperlipidemia
48 –  F 1989 19 Jerusalem, Israel 1.5  61 378 + +
Kayseri mutation		 Edema Becker-Cohen  2009 Sister of case #46, hyperlipidemia
49 –  M 1991 17 Monastir, Tunisia 0.3  42 448 – + None Caridi – 2009 Neonatal Infection
50 –  F 2006 3 Bologna, Italy 11.0  50 370 – + None Dagnino – 2010 Dyslipidemia
51 – F 1989 21 Safranbolu, Turkey 1.2 49.3 419 + + Edema in the lower limbs Dagnino – 2010
52 – M 1966 45 Beirut, Lebanon 0.9 51.8 326 + +
El Jadida mutation		 Lipodystrophy, edematous legs Dagnino – 2011 Moderate dyslipidemia
53 – M 1995 17 Guimarães, Portugal 3.8 50.2 552 + + None Caridi – 2012 (ref. 43)
54 – M 1986 26 Amasya, Turkey 7.2 50.0 – + + Swelling of the legs, eye-lids Caridi – 2012 (ref. 44)
55 – M 2012 2 mo Tripoli, Lybia 0.1 33 161 + + Prominent generalized pitting edema Bibi – 2012
56 – M 2010 2 Tripoli, Lybia 0.2 44 262 + + Tetany crisis with general edema Bibi – 2012 Brother of case #55, marked hypocalcemia
57 – F 1995 17 Punjabi, Pakistan 9.0 56.0 422 + +
Kayseri mutation		 Mild lower limb edema Caridi – 2012 (ref. 46)
58 N.F. F 1970 42 Turkey <0.35 51.0 491 ? – Edema in the lower limbs Schmeller – 2012
59 E.M. F 1973 39 Turkey <0.35 56.0 488 ? – Edema in the lower limbs Schmeller – 2012 Dyslipidemia
60 – M 1965 48 Afula, Israel 1.9 60.0 310 + + Acute myocardial infarction at the age of 36 years Caridi – 2013
61 – M 2003 10 Afula, Israel 1.5 55.0 400 + + None Caridi – 2013 Second-degree cousin of case #58
62 – F 2013 1 da Ankara, Turkey <8.0 27.0 232 + + Respiratory distress Caridi – 2014 Moderate dyslipidemia
63 – F 1991 23 Australia 8.0 55.0 317 – +

Kayseri mutation

 Lipodystropy Berglund – 2015 Dyslipidemia The family comes from small town in Lebanon
64 – M 2013 2 Treves, Germany 0.16 42.0 431 – + Edema of the lower extremities Caridi – 2016 (ref. 51) Dyslipidemia
65 – F 2013 3 Erzurum, Turkey 10.0 50.0 493 + + Respiratory distress, hypothyroidism Caridi – 2016 (ref. 52) Dyslipidemia
66 – M 2014 2 Erzurum, Turkey 16.0 49.0 363 + + Edema, respiratory tract infection Caridi – 2016 (ref. 52) Brother of case #65, moderate dyslipidemia
67 – F 1990 24 Tissemsilt (Northern Algeria) <0.01 48 260 + +

Guimarães mutation

 Edema in the lower limbs Caridi – 2018 (ref. 53)
68 – F 2000 14 Antalya (Southern Anatolia, Turkey) 14.4 52 378 + +

Guimarães mutation

 None Caridi – 2018 (ref. 53)
69 – F 2003 11 Antalya (Southern Anatolia, Turkey) 18.0 51 182 + +

Guimarães mutation

 Slight edematous face and pre-tibial edema Caridi – 2018 (ref. 53) Sister of case #68
70 – F 1978 40 Madeira, Portugal <15 58.4 459 + + Slight edema on the lower limbs Caridi – 2018 (ref. 54) Dyslipidemia
71 – M 1975 43 Ghazaouet, North-Western Algeria 16 57.7 375 + + Edema in the lower parts of the legs Caridi – 2019 (ref. 55) Hypercholesterolemia, 3 children
72 – F 1980 38 Ghazaouet, North-Western Algeria 19 56.6 241 + + Slight edema on the lower limbs Caridi – 2019 (ref. 55) Sister of case #71, serious problems during her first pregnancy
73 – F 1979 39 Bari, Italy 0.2 – 321 – +
Safranbolu mutation		 Slight edema on the lower limbs Suppressa – 2019 (ref. 56) Hypercholesterolemia, one male child
74 – F 1977 42 Brazil 0.12 47 272 – +
Guimaraes mutation		 Slight edema on the lower limbs Cabrejas Núñez MJ – 2020 (ref. 57) perimalleolar oedema,
lipodystrophy,
one abortion and one live birth
75 – M 1983 36 Hama, Syria <2 51 336 + + recurring infections of the respiratory tract Caridi – 2020 (ref. 59) Hypercholesterolemia, one heterozygous brother
In addition to the 75 cases listed in the Register, 8 cases were reported among the children of two remote First Nations communities living in the northwestern central plains region in Saskatchewan, Saskatoon, Canada (Toye J.M., Lemire E.G. & Baerg K.L. (2012). Perinatal and childhood morbidity and mortality in congenital analbuminemia. Paediatr Child Health. Jun;17(6), e20-3). All these cases are likely caused by the Kayseri mutation (see cases # 34 and 35). An additional instance of the Kayseri mutation was identified in a member of a Turkish family (Lorenzo Minchiotti, unpublished result).

1All the reported cases had significant hypercholesterolaemia eccept for cases # 36, 45, 55 and 69.

2The results of  DNA sequencing and putative effects at the protein level are reported in the list of Analbuminemia Causing Mutations. In the present Register the name of the mutation is reported only when it is different from the name of the location (column # 12).
REVISED 22.01.2021