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 Con san gui nity DNA sequence2 Symptoms 1st author & year of 1st report 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. 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 ? - Lipodystrophy Gossi - 2000
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 + + Lower limb edema 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 ? - Lower limb edema Schmeller - 2012
59 E.M. F 1973 39 Turkey <0.35 56.0 488 ? - Lower limb edema 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 - + 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 - In press Dyslipidemia
65 - F 2013 3 Erzurum, Turkey 10.0 50.0 493 + + Respiratory distress, hypothyroidism Caridi - 2016 Dyslipidemia
66 - M 2014 2 Erzurum, Turkey 16.0 49.0 363 + + Edema, respiratory tract infection Caridi - 2016 Brother of case #65, moderate dyslipidemia

In addition to the 66 cases listed in the Register, 8 cases were reported among the cildren of two remote First Nations communities living in the northwestern central plains region in Saskatchewan, Saskatoon, Canada (Toye JM, Lemire EG, Baerg KL. Perinatal and childhood morbidity and mortality in congenital analbuminemia. (2012) 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, and 55.

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 # 7).